Updated on 2025/10/20

写真a

 
KOYAMA Akihide
 
Organization
Academic Assembly Institute of Medicine and Dentistry IGAKU KEIRETU Assistant Professor
Graduate School of Medical and Dental Sciences Community Disease Control Community Preventive Medicine Assistant Professor
Title
Assistant Professor
Other name(s)
koyamaa
External link

Degree

  • 博士(医学) ( 2017.3   新潟大学 )

Research Interests

  • 法医学

  • 安定同位体

  • バイオマーカー

  • 透明化

  • 神経疾患

  • 核酸検出

  • 核酸断片化

Research Areas

  • Life Science / Forensics medicine

  • Life Science / Neurology

  • Life Science / Basic brain sciences

Research History (researchmap)

  • Niigata University   Graduate School of Medical and Dental Sciences   Assistant Professor

    2017.7

      More details

  • Niigata University   Faculty of Medicine   Assistant Professor

    2017.4

      More details

  • Niigata University   Brain Research Institute   Specially Appointed Assistant Professor

    2016.10 - 2017.3

      More details

  • 新潟大学研究機構超域学術院 助教

    2012.4 - 2016.9

      More details

Research History

  • Niigata University   Graduate School of Medical and Dental Sciences Community Disease Control Community Preventive Medicine   Assistant Professor

    2017.4

  • Niigata University   Brain Research Institute   Specially Appointed Assistant Professor

    2016.10 - 2017.3

  • Niigata University   Institute for Research Promotion Center for Transdisciplinary Research   Assistant Professor

    2011.4 - 2016.9

Education

  • Niigata University   Graduate School of Medical and Dental Sciences

    2017.3

      More details

  • Niigata University   Graduate School of Medical and Dental Sciences   Master Course's Graduate Program for Biomedical Sciences

    2007.4 - 2009.3

      More details

Professional Memberships

 

Papers

  • Diagnosis of Leptomeningeal Disease in Diffuse Midline Gliomas by Detection of H3F3A K27M Mutation in Circulating Tumor DNA of Cerebrospinal Fluid. International journal

    Satoshi Shibuma, Jotaro On, Manabu Natsumeda, Akihide Koyama, Haruhiko Takahashi, Jun Watanabe, Masaki Mitobe, Satoshi Nakata, Yuki Tanaka, Yoshihiro Tsukamoto, Masayasu Okada, Junichi Yoshimura, Mari Tada, Hiroshi Shimizu, Soichi Oya, Junko Murai, Kouichirou Okamoto, Hiroyuki Kawashima, Akiyoshi Kakita, Makoto Oishi

    Pediatric blood & cancer   72 ( 4 )   e31535   2025.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/pbc.31535

    Web of Science

    PubMed

    researchmap

  • An autopsy case of encapsulated acute subdural hematoma presenting as an acute-on-chronic spontaneous subdural hematoma. International journal

    Kazuhisa Funayama, Akihide Koyama, Rieka Katsuragi-Go, Takashi Aoyama, Hiraku Watanabe, Naoya Takahashi, Hisakazu Takatsuka

    Legal medicine (Tokyo, Japan)   73   102570 - 102570   2025.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.legalmed.2025.102570

    Web of Science

    PubMed

    researchmap

  • SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan International journal

    Tomohiko Ishihara, Akihide Koyama, Naoki Atsuta, Mari Tada, Saori Toyoda, Kenta Kashiwagi, Sachiko Hirokawa, Yuya Hatano, Akio Yokoseki, Ryoichi Nakamura, Genki Tohnai, Yuishin Izumi, Ryuji Kaji, Mitsuya Morita, Asako Tamura, Osamu Kano, Masashi Aoki, Satoshi Kuwabara, Akiyoshi Kakita, Gen Sobue, Osamu Onodera

    BMC Medical Genomics   17 ( 1 )   263 - 263   2024.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s12920-024-02026-y

    Web of Science

    PubMed

    researchmap

    Other Link: https://link.springer.com/article/10.1186/s12920-024-02026-y/fulltext.html

  • Qki5 safeguards spinal motor neuron function by defining the motor neuron-specific transcriptome via pre-mRNA processing. International journal

    Yoshika Hayakawa-Yano, Takako Furukawa, Tsuyoshi Matsuo, Takahisa Ogasawara, Masahiro Nogami, Kazumasa Yokoyama, Masato Yugami, Munehisa Shinozaki, Chihiro Nakamoto, Kenji Sakimura, Akihide Koyama, Kazuhiro Ogi, Osamu Onodera, Hirohide Takebayashi, Hideyuki Okano, Masato Yano

    Proceedings of the National Academy of Sciences of the United States of America   121 ( 37 )   e2401531121   2024.9

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1073/pnas.2401531121

    Web of Science

    PubMed

    researchmap

  • 神経皮膚黒色症剖検例における多領域ゲノム解析

    高橋 陽彦, 棗田 学, 塚本 佳広, 岡田 正康, 原 範和, 小山 哲秀, 宮下 哲典, 結城 明彦, 清水 宏, 柿田 明美, 池内 健, 大石 誠

    小児の脳神経   49 ( 2 )   228 - 228   2024.4

     More details

    Language:Japanese   Publisher:(一社)日本小児神経外科学会  

    researchmap

  • Ultrasensitive malaria detection system for Anopheles mosquito field surveillance using droplet digital PCR. International journal

    Tamasa Araki, Akihide Koyama, Hiro Yoshimura, Ayako Arai, Satoru Kawai, Shuto Sekizawa, Yuko Umeki, Yumiko Saito-Nakano, Takashi Imai, Munehiro Okamoto, Megumi Sato, Wipaporn Thabthimthong, Taratorn Kemthong, Hajime Hisaeda, Suchinda Malaivijitnond, Takeshi Annoura

    Parasitology international   101   102891 - 102891   2024.3

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.parint.2024.102891

    Web of Science

    PubMed

    researchmap

  • Corrigendum: Regeneration of the cerebral cortex by direct chemical reprogramming of macrophages into neuronal cells in acute ischemic stroke. International journal

    Ninomiya I, Koyama A, Otsu Y, Onodera O, Kanazawa M

    Frontiers in cellular neuroscience   18   1372045 - 1372045   2024.2

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fncel.2024.1372045

    Web of Science

    PubMed

    researchmap

  • Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. International journal

    Haruhiko Takahashi, Manabu Natsumeda, Norikazu Hara, Akihide Koyama, Hiroshi Shimizu, Akinori Miyashita, Daiken Satake, Yoshihiro Mouri, Jun Tsukano, Keita Kawabe, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Akihiko Yuki, Hajime Umezu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Oishi

    Acta neuropathologica communications   12 ( 1 )   14 - 14   2024.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s40478-024-01723-0

    Web of Science

    PubMed

    researchmap

  • Reliable detection of genetic alterations in cyst fluid DNA for the diagnosis of brain tumors. International journal

    Jotaro On, Manabu Natsumeda, Haruhiko Takahashi, Akihide Koyama, Satoshi Shibuma, Nao Shibata, Jun Watanabe, Shoji Saito, Yu Kanemaru, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Takeyoshi Eda, Mari Tada, Hiroshi Shimizu, Jun-Ichi Adachi, Kazuhiko Mishima, Ryo Nishikawa, Akiyoshi Kakita, Makoto Oishi

    Journal of neuro-oncology   166 ( 2 )   273 - 282   2024.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s11060-023-04555-5

    Web of Science

    PubMed

    researchmap

  • Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.

    Miura A, Yamamoto T, Funayama K, Koyama A, Takatsuka H, Sato T, Nishio H

    International heart journal   65 ( 1 )   55 - 62   2024.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1536/ihj.23-252

    Web of Science

    PubMed

    researchmap

  • TDP-43 differentially propagates to induce antero- and retrograde degeneration in the corticospinal circuits in mouse focal ALS models. Reviewed International journal

    Shintaro Tsuboguchi, Yuka Nakamura, Tomohiko Ishihara, Taisuke Kato, Tokiharu Sato, Akihide Koyama, Hideki Mori, Yuka Koike, Osamu Onodera, Masaki Ueno

    Acta neuropathologica   146 ( 4 )   611 - 629   2023.8

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s00401-023-02615-8

    Web of Science

    PubMed

    researchmap

  • Bleeding-Source Exploration in Subdural Hematoma: Observational Study on the Usefulness of Postmortem Computed Tomography Angiography. Reviewed International journal

    Kazuhisa Funayama, Akihide Koyama, Rieka Katsuragi-Go, Takashi Aoyama, Hiraku Watanabe, Naoya Takahashi, Hisakazu Takatsuka

    Diagnostics (Basel, Switzerland)   13 ( 13 )   2023.7

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3390/diagnostics13132286

    Web of Science

    PubMed

    researchmap

  • Phosphorylation of α-synuclein at T64 results in distinct oligomers and exerts toxicity in models of Parkinson's disease. Reviewed International journal

    Hideaki Matsui, Shinji Ito, Hideki Matsui, Junko Ito, Ramil Gabdulkhaev, Mika Hirose, Tomoyuki Yamanaka, Akihide Koyama, Taisuke Kato, Maiko Tanaka, Norihito Uemura, Noriko Matsui, Sachiko Hirokawa, Maki Yoshihama, Aki Shimozawa, Shin-Ichiro Kubo, Kenji Iwasaki, Masato Hasegawa, Ryosuke Takahashi, Keisuke Hirai, Akiyoshi Kakita, Osamu Onodera

    Proceedings of the National Academy of Sciences of the United States of America   120 ( 23 )   e2214652120   2023.6

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1073/pnas.2214652120

    Web of Science

    PubMed

    researchmap

  • 災害時に即応可能な迅速PCR検査の確立

    小山 哲秀, 和泉 邦彦, 高塚 尚和, 高橋 昌

    Japanese Journal of Disaster Medicine   27 ( Suppl.2 )   247 - 247   2023.4

     More details

    Language:Japanese   Publisher:(一社)日本災害医学会  

    researchmap

  • Regeneration of the cerebral cortex by direct chemical reprogramming of macrophages into neuronal cells in acute ischemic stroke. Reviewed International journal

    Itaru Ninomiya, Akihide Koyama, Yutaka Otsu, Osamu Onodera, Masato Kanazawa

    Frontiers in cellular neuroscience   17   1225504 - 1225504   2023

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fncel.2023.1225504

    Web of Science

    PubMed

    researchmap

  • Detection and Morphological Analysis of Micro-Ruptured Cortical Arteries in Subdural Hematoma: Three-Dimensional Visualization Using the Tissue-Clearing Clear, Unobstructed, Brain/Body Imaging Cocktails and Computational Analysis Method. Reviewed International journal

    Kazuhisa Funayama, Kazuki Tainaka, Akihide Koyama, Rieka Katsuragi-Go, Natsumi Nishikawa-Harada, Ryoko Higuchi, Takashi Aoyama, Hiraku Watanabe, Naoya Takahashi, Hisakazu Takatsuka

    Diagnostics (Basel, Switzerland)   12 ( 11 )   2022.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3390/diagnostics12112875

    Web of Science

    PubMed

    researchmap

  • FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA inC9orf72-linked ALS/FTD Reviewed International journal

    Yuzo Fujino, Morio Ueyama, Taro Ishiguro, Daisaku Ozawa, Toshihiko Sugiki, Hayato Ito, Asako Murata, Akira Ishiguro, Tania F. Gendron, Kohji Mori, Eiichi Tokuda, Tomoya Taminato, Takuya Konno, Akihide Koyama, Yuya Kawabe, Toshihide Takeuchi, Yoshiaki Furukawa, Toshimichi Fujiwara, Manabu Ikeda, Toshiki Mizuno, Hideki Mochizuki, Hidehiro Mizusawa, Keiji Wada, Kinya Ishikawa, Osamu Onodera, Kazuhiko Nakatani, Hideki Taguchi, Leonard Petrucelli, Yoshitaka Nagai

    eLife   12   2022.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1101/2022.11.01.514717

    Web of Science

    PubMed

    researchmap

  • Endogenous human retrovirus-K is not increased in the affected tissues of Japanese ALS patients. Reviewed International journal

    Tomohiko Ishihara, Akihide Koyama, Yuya Hatano, Ryoko Takeuchi, Yuka Koike, Taisuke Kato, Mari Tada, Akiyoshi Kakita, Osamu Onodera

    Neuroscience research   178   78 - 82   2022.2

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.neures.2022.01.009

    Web of Science

    PubMed

    researchmap

  • PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis. Reviewed International journal

    Aya Miura, Kazuhisa Funayama, Hiromi Nyuzuki, Naoya Takahashi, Takuma Yamamoto, Akihide Koyama, Takeshi Ikeuchi, Hisakazu Takatsuka, Hajime Nishio

    Legal medicine (Tokyo, Japan)   55   102029 - 102029   2022.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.legalmed.2022.102029

    Web of Science

    PubMed

    researchmap

  • Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model. Reviewed International journal

    Taisuke Kato, Ri-Ichiroh Manabe, Hironaka Igarashi, Fuyuki Kametani, Sachiko Hirokawa, Yumi Sekine, Natsumi Fujita, Satoshi Saito, Yusuke Kawashima, Yuya Hatano, Shoichiro Ando, Hiroaki Nozaki, Akihiro Sugai, Masahiro Uemura, Masaki Fukunaga, Toshiya Sato, Akihide Koyama, Rie Saito, Atsushi Sugie, Yasuko Toyoshima, Hirotoshi Kawata, Shigeo Murayama, Masaki Matsumoto, Akiyoshi Kakita, Masato Hasegawa, Masafumi Ihara, Masato Kanazawa, Masatoyo Nishizawa, Shoji Tsuji, Osamu Onodera

    The Journal of clinical investigation   131 ( 22 )   2021.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1172/JCI140555

    Web of Science

    PubMed

    researchmap

  • The usefulness of postmortem computed tomography angiography for subdural hematoma caused by rupture of the cortical artery: A report of two autopsy cases and a literature review. Reviewed International journal

    Kazuhisa Funayama, Kazuki Harada, Akihide Koyama, Rieka Katsuragi-Go, Natsumi Nishikawa-Harada, Ryoko Higuchi, Takashi Aoyama, Hiraku Watanabe, Naoya Takahashi, Hisakazu Takatsuka

    Legal medicine (Tokyo, Japan)   53   101941 - 101941   2021.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.legalmed.2021.101941

    Web of Science

    PubMed

    researchmap

  • Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade. Reviewed International journal

    Masahiro Uemura, Hiroaki Nozaki, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Taisuke Kato, Osamu Onodera

    Frontiers in neurology   12   756038 - 756038   2021

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fneur.2021.756038

    Web of Science

    PubMed

    researchmap

  • FTLD/ALSモデルマウスにおけるTDP-43の皮質内と皮質脊髄内での増殖(Intracortical and corticospinal spreading of TDP-43 in mouse FTLD/ALS models)

    坪口 晋太朗, 中村 由香, 石原 智彦, 加藤 泰介, 小山 哲秀, 佐藤 時春, 吉田 富, 上野 将紀, 小野寺 理

    Dementia Japan   34 ( 4 )   524 - 524   2020.10

     More details

    Language:English   Publisher:(一社)日本認知症学会  

    researchmap

  • Intracortical and corticospinal spreading of TDP-43 in mouse FTLD/ALS models(和訳中)

    坪口 晋太朗, 中村 由香, 石原 智彦, 加藤 泰介, 小山 哲秀, 佐藤 時春, 吉田 富, 上野 将紀, 小野寺 理

    Dementia Japan   34 ( 4 )   524 - 524   2020.10

     More details

    Language:English   Publisher:(一社)日本認知症学会  

    researchmap

  • HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature Reviewed

    Masahiro Uemura, Hiroaki Nozaki, Taisuke Kato, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Nozomi Hishikawa, Yoshinori Nishimoto, Kiran Polavarapu, Atchayaram Nalini, Akira Hanazono, Daisuke Kuzume, Akihiro Shindo, Mohammad El-Ghanem, Arata Abe, Aki Sato, Mari Yoshida, Takeshi Ikeuchi, Ikuko Mizuta, Toshiki Mizuno, Osamu Onodera

    FRONTIERS IN NEUROLOGY   11   2020.7

     More details

  • Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1. Reviewed International journal

    Naoko Sakai, Masahiro Uemura, Taisuke Kato, Hiroaki Nozaki, Akihide Koyama, Shouichirou Ando, Hiroyuki Kamei, Motohiro Kato, Osamu Onodera

    Neurology. Genetics   6 ( 1 )   e383   2020.2

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1212/NXG.0000000000000383

    PubMed

    researchmap

  • Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3 ' UTR of collagen type IV alpha 1 Reviewed

    Naoko Sakai, Masahiro Uemura, Taisuke Kato, Hiroaki Nozaki, Akihide Koyama, Shouichirou Ando, Hiroyuki Kamei, Motohiro Kato, Osamu Onodera

    NEUROLOGY-GENETICS   6 ( 1 )   2020.2

     More details

  • HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature. Reviewed International journal

    Masahiro Uemura, Hiroaki Nozaki, Taisuke Kato, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Nozomi Hishikawa, Yoshinori Nishimoto, Kiran Polavarapu, Atchayaram Nalini, Akira Hanazono, Daisuke Kuzume, Akihiro Shindo, Mohammad El-Ghanem, Arata Abe, Aki Sato, Mari Yoshida, Takeshi Ikeuchi, Ikuko Mizuta, Toshiki Mizuno, Osamu Onodera

    Frontiers in neurology   11   545 - 545   2020

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke, spondylosis deformans, and alopecia. In CARASIL cases, brain magnetic resonance imaging reveals severe white matter hyperintensities (WMHs), lacunar infarctions, and microbleeds. CARASIL is caused by a homozygous mutation in high-temperature requirement A serine peptidase 1 (HTRA1). Recently, it was reported that several heterozygous mutations in HTRA1 also cause cerebral small vessel disease (CSVD). Although patients with heterozygous HTRA1-related CSVD (symptomatic carriers) are reported to have a milder form of CARASIL, little is known about the clinical and genetic differences between the two diseases. Given this gap in the literature, we collected clinical information on HTRA1-related CSVD from a review of the literature to help clarify the differences between symptomatic carriers and CARASIL and the features of both diseases. Forty-six symptomatic carriers and 28 patients with CARASIL were investigated. Twenty-eight mutations in symptomatic carriers and 22 mutations in CARASIL were identified. Missense mutations in symptomatic carriers are more frequently identified in the linker or loop 3 (L3)/loop D (LD) domains, which are critical sites in activating protease activity. The ages at onset of neurological symptoms/signs were significantly higher in symptomatic carriers than in CARASIL, and the frequency of characteristic extraneurological findings and confluent WMHs were significantly higher in CARASIL than in symptomatic carriers. As previously reported, heterozygous HTRA1-related CSVD has a milder clinical presentation of CARASIL. It seems that haploinsufficiency can cause CSVD among symptomatic carriers according to the several patients with heterozygous nonsense/frameshift mutations. However, the differing locations of mutations found in the two diseases indicate that distinct molecular mechanisms influence the development of CSVD in patients with HTRA1-related CSVD. These findings further support continued careful examination of the pathogenicity of mutations located outside the linker or LD/L3 domain in symptomatic carriers.

    DOI: 10.3389/fneur.2020.00545

    PubMed

    researchmap

  • Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation. Reviewed International journal

    Akihiro Sugai, Taisuke Kato, Akihide Koyama, Yuka Koike, Takuya Konno, Tomohiko Ishihara, Osamu Onodera

    Neurobiology of disease   130   104534 - 104534   2019.10

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by accumulation of fragmented insoluble TDP-43 and loss of TDP-43 from the nucleus. Increased expression of exogenous TARDBP (encoding TDP-43) induces TDP-43 pathology and cytotoxicity, suggesting the involvement of aberrant expression of TDP-43 in the pathogenesis of ALS. In normal conditions, however, the amount of TDP-43 is tightly regulated by the autoregulatory mechanism involving alternative splicing of TARDBP mRNA. To investigate the influence of autoregulation dysfunction, we inhibited the splicing of cryptic intron 6 using antisense oligonucleotides in vivo. This inhibition doubled the Tardbp mRNA expression, increased the fragmented insoluble TDP-43, and reduced the number of motor neurons in the mouse spinal cord. In human induced pluripotent stem cell-derived neurons, the splicing inhibition of intron 6 increased TARDBP mRNA and decreased nuclear TDP-43. These non-genetically modified models exhibiting rise in the TARDBP mRNA levels suggest that TDP-43 autoregulation turbulence might be linked to the pathogenesis of ALS.

    DOI: 10.1016/j.nbd.2019.104534

    PubMed

    researchmap

  • Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation Reviewed

    Akihiro Sugai, Taisuke Kato, Akihide Koyama, Yuka Koike, Takuya Konno, Tomohiko Ishihara, Osamu Onodera

    NEUROBIOLOGY OF DISEASE   130   2019.10

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.nbd.2019.104534

    Web of Science

    researchmap

  • HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.

    Masahiro Uemura, Nozaki H, Koyama A, Sakai N, Ando S, Masato Kanazawa, Taisuke Kato, Osamu Onodera

    Frontiers in neurology   2019.6

     More details

    Publishing type:Research paper (scientific journal)  

    <b>Background:</b> Mutations in the <i>high-temperature requirement A serine peptidase 1 (HTRA1)</i> cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Most carriers for <i>HTRA1</i> mutations are asymptomatic, but more than 10 mutations have been reported in symptomatic carriers. The molecular differences between the mutations identified in symptomatic carriers and mutations identified only in CARASIL patients are unclear. HTRA1 is a serine protease that forms homotrimers, with each HTRA1 subunit activating the adjacent HTRA1 via the sensor domain of loop 3 (L3) and the activation domain of loop D (LD). Previously, we analyzed four HTRA1 mutant proteins identified in symptomatic carriers and found that they were unable to form trimers or had mutations in the LD or L3 domain. The mutant HTRA1s with these properties are presumed to inhibit trimer-dependent activation cascade. Indeed, these mutant HTRA1s inhibited wild-type (WT) protease activity. In this study, we further analyzed 15 missense HTRA1s to clarify the molecular character of mutant HTRA1s identified in symptomatic carriers. <b>Methods:</b> We analyzed 12 missense HTRA1s identified in symptomatic carriers (hetero-HTRA1) and three missense HTRA1s found only in CARASIL (CARASIL-HTRA1). The protease activity of the purified recombinant mutant HTRA1s was measured using fluorescein isothiocyanate-labeled casein as substrate. Oligomeric structure was evaluated by size-exclusion chromatography. The protease activities of mixtures of WT with each mutant HTRA1 were also measured. <b>Results:</b> Five hetero-HTRA1s had normal protease activity and were excluded from further analysis. Four of the seven hetero-HTRA1s and one of the three CARASIL-HTRA1s were unable to form trimers. The other three hetero-HTRA1s had mutations in the LD domain. Together with our previous work, 10 of 11 hetero-HTRA1s and two of six CARASIL-HTRA1s were either defective in trimerization or had mutations in the LD or L3 domain (<i>P</i> = 0.006). By contrast, eight of 11 hetero-HTRA1s and two of six CARASIL-HTRA1 inhibited WT protease activity (<i>P</i> = 0.162). <b>Conclusions:</b> HTRA1 mutations identified in symptomatic carriers have the property of interfering the trimer-dependent activation cascade of HTRA1.

    DOI: 10.3389/fneur.2019.00693

    PubMed

    researchmap

  • HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade Reviewed International journal

    Masahiro Uemura, Hiroaki Nozaki, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Taisuke Kato, Osamu Onodera

    FRONTIERS IN NEUROLOGY   10   756038 - 756038   2019.6

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fneur.2019.00693

    Web of Science

    PubMed

    researchmap

  • An autopsy case of peliosis hepatis with X-linked myotubular myopathy. Reviewed International journal

    Kazuhisa Funayama, Hiroshi Shimizu, Hidetomo Tanaka, Izumi Kawachi, Ichizo Nishino, Kou Matsui, Naoya Takahashi, Akihide Koyama, Rieka Katsuragi-Go, Ryoko Higuchi, Takashi Aoyama, Hiraku Watanabe, Akiyoshi Kakita, Hisakazu Takatsuka

    Legal medicine (Tokyo, Japan)   38   77 - 82   2019.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    This report describes the autopsy case of a 4-year-old boy who died from hepatic hemorrhage and rupture caused by peliosis hepatis with X-linked myotubular myopathy. Peliosis hepatis is characterized by multiple blood-filled cavities of various sizes in the liver, which occurs in chronic wasting disease or with the use of specific drugs. X-linked myotubular myopathy is one of the most serious types of congenital myopathies, in which an affected male infant typically presents with severe hypotonia and respiratory distress immediately after birth. Although each disorder is rare, 12 cases of pediatric peliosis hepatis associated with X-linked myotubular myopathy have been reported, including our case. Peliosis hepatis should be considered as a cause of hepatic hemorrhage despite its low incidence, and it requires adequate gross and histological investigation for correct diagnosis.

    DOI: 10.1016/j.legalmed.2019.04.005

    PubMed

    researchmap

  • ショウジョウバエモデルによるC9-ALS/FTDの病態解明

    上山 盛夫, 石黒 太郎, Gendron Tania F, 今野 卓哉, 小山 哲秀, 望月 秀樹, 和田 圭司, 石川 欣也, 小野寺 理, 永井 義隆

    Dementia Japan   32 ( 3 )   435 - 435   2018.9

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data Reviewed

    Akihiro Sugai, Taisuke Kato, Akihide Koyama, Yuka Koike, Sou Kasahara, Takuya Konno, Tomohiko Ishihara, Osamu Onodera

    FRONTIERS IN NEUROSCIENCE   12   2018.2

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fnins.2018.00028

    Web of Science

    researchmap

  • Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data. Reviewed International journal

    Akihiro Sugai, Taisuke Kato, Akihide Koyama, Yuka Koike, Sou Kasahara, Takuya Konno, Tomohiko Ishihara, Osamu Onodera

    Frontiers in neuroscience   12   28 - 28   2018

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    Abnormal accumulation of TAR DNA-binding protein 43 (TDP-43) in the cytoplasm and its disappearance from the nucleus are pathological features of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) and are directly involved in the pathogenesis of these conditions. TDP-43 is an essential nuclear protein that readily aggregates in a concentration-dependent manner. Therefore, cells must strictly maintain an appropriate amount of nuclear TDP-43. In one relevant maintenance mechanism, TDP-43 binds to its pre-mRNA and promotes alternative splicing, resulting in mRNA degradation via nonsense-mediated mRNA decay. The level of nuclear TDP-43 is tightly regulated by these mechanisms, which control the amount of mRNA that may be translated. Based on the results of previous experiments, we developed an in silico model that mimics the intracellular dynamics of TDP-43 and examined TDP-43 metabolism under various conditions. We discovered an inherent trade-off in this mechanism between transcriptional redundancy, which maintains the robustness of TDP-43 metabolism, and vulnerability to specific interfering factors. These factors include an increased tendency of TDP-43 to aggregate, impaired nuclear-cytoplasmic TDP-43 transport, and a decreased efficiency of degrading abnormal proteins, all of which are functional abnormalities related to the gene that causes familial ALS/FTD. When these conditions continue at a certain intensity, the vulnerability of the autoregulatory machinery becomes apparent over time, and transcriptional redundancy enters a vicious cycle that ultimately results in TDP-43 pathology. The results obtained using this in silico model reveal the difference in TDP-43 metabolism between normal and disease states. Furthermore, using this model, we simulated the effect of a decrease in TDP-43 transcription and found that this decrease improved TDP-43 pathology and suppressed the abnormal propagation of TDP-43. Therefore, we propose a potential therapeutic strategy to suppress transcriptional redundancy, which is the driving force of the pathological condition caused by the specific factors described above, in patients with ALS presenting with TDP-43 pathology. An ALS animal model exhibiting TDP-43 pathology without overexpression of exogenous TDP-43 should be developed to investigate the effect of alleviating the transcriptional redundancy of TARDBP.

    DOI: 10.3389/fnins.2018.00028

    PubMed

    researchmap

  • The SMN gene copy number states in Japanese ALS patients

    Ishihara T, Toyoda S, Koyama A, Tada M, Atsuta N, Nakamura R, Tohnai G, Sone J, Izumi Y, Kaji R, Morita M, Taniguchi A, Kakita A, Sobue G, Nishizawa M, Onodera O

    JOURNAL OF THE NEUROLOGICAL SCIENCES   381   211-211   2017.10

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jns.2017.08.604

    researchmap

  • Distinct Molecular Mechanisms of Htra1 Mutants in Manifesting Heterozygotes With Carasil

    Hiroaki Nozaki, Taisuke Kato, Megumi Nihonmatsu, Yohei Saito, Ikuko Mizuta, Tomoko Noda, Ryoko Koike, Kazuhide Miyazaki, Muichi Kaito, Shoichi Ito, Masahiro Makino, Akihide Koyama

    STROKE   48   2017.2

     More details

    Language:English  

    Web of Science

    researchmap

  • Toxicity of dipeptide repeat proteins in C9 ALS/FTD model fly

    Morio Ueyama, Taro Ishiguro, Tania F. Gendron, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Kinya Ishikawa, Keiji Wada, Leonard Petrucelli, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   91 ( 6 )   365 - 365   2016.12

     More details

    Language:English  

    Web of Science

    researchmap

  • Performance of a real-time PCR-based approach and droplet digital PCR in detecting human parechovirus type 3 RNA. Reviewed International journal

    Yuta Aizawa, Akihide Koyama, Tomohiko Ishihara, Osamu Onodera, Akihiko Saitoh

    Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology   84   27 - 31   2016.11

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jcv.2016.09.009

    Web of Science

    PubMed

    researchmap

  • Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43. Reviewed International journal

    Akihide Koyama, Akihiro Sugai, Taisuke Kato, Tomohiko Ishihara, Atsushi Shiga, Yasuko Toyoshima, Misaki Koyama, Takuya Konno, Sachiko Hirokawa, Akio Yokoseki, Masatoyo Nishizawa, Akiyoshi Kakita, Hitoshi Takahashi, Osamu Onodera

    Nucleic acids research   44 ( 12 )   5820 - 36   2016.7

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/nar/gkw499

    Web of Science

    PubMed

    researchmap

  • Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. Reviewed International journal

    Hiroaki Nozaki, Taisuke Kato, Megumi Nihonmatsu, Yohei Saito, Ikuko Mizuta, Tomoko Noda, Ryoko Koike, Kazuhide Miyazaki, Muichi Kaito, Shoichi Ito, Masahiro Makino, Akihide Koyama, Atsushi Shiga, Masahiro Uemura, Yumi Sekine, Ayuka Murakami, Suzuko Moritani, Kenju Hara, Akio Yokoseki, Ryozo Kuwano, Naoto Endo, Takeshi Momotsu, Mari Yoshida, Masatoyo Nishizawa, Toshiki Mizuno, Osamu Onodera

    Neurology   86 ( 21 )   1964 - 74   2016.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    OBJECTIVE: To elucidate the molecular mechanism of mutant HTRA1-dependent cerebral small vessel disease in heterozygous individuals. METHODS: We recruited 113 unrelated index patients with clinically diagnosed cerebral small vessel disease. The coding sequences of the HTRA1 gene were analyzed. We evaluated HTRA1 protease activities using casein assays and oligomeric HTRA1 formation using gel filtration chromatography. RESULTS: We found 4 heterozygous missense mutations in the HTRA1 gene (p.G283E, p.P285L, p.R302Q, and p.T319I) in 6 patients from 113 unrelated index patients and in 2 siblings in 2 unrelated families with p.R302Q. The mean age at cognitive impairment onset was 51.1 years. Spondylosis deformans was observed in all cases, whereas alopecia was observed in 3 cases; an autopsied case with p.G283E showed arteriopathy in their cerebral small arteries. These mutant HTRA1s showed markedly decreased protease activities and inhibited wild-type HTRA1 activity, whereas 2 of 3 mutant HTRA1s reported in cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (A252T and V297M) did not inhibit wild-type HTRA1 activity. Wild-type HTRA1 forms trimers; however, G283E and T319I HTRA1, observed in manifesting heterozygotes, did not form trimers. P285L and R302Q HTRA1s formed trimers, but their mutations were located in domains that are important for trimer-associated HTRA1 activation; in contrast, A252T and V297M HTRA1s, which have been observed in CARASIL, also formed trimers but had mutations outside the domains important for trimer-associated HTRA1 activation. CONCLUSIONS: The mutant HTRA1s observed in manifesting heterozygotes might result in an impaired HTRA1 activation cascade of HTRA1 or be unable to form stable trimers.

    DOI: 10.1212/WNL.0000000000002694

    PubMed

    researchmap

  • Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL Reviewed International journal

    Hiroaki Nozaki, Taisuke Kato, Megumi Nihonmatsu, Yohei Saito, Ikuko Mizuta, Tomoko Noda, Ryoko Koike, Kazuhide Miyazaki, Muichi Kaito, Shoichi Ito, Masahiro Makino, Akihide Koyama, Atsushi Shiga, Masahiro Uemura, Yumi Sekine, Ayuka Murakami, Suzuko Moritani, Kenju Hara, Akio Yokoseki, Ryozo Kuwano, Naoto Endo, Takeshi Momotsu, Mari Yoshida, Masatoyo Nishizawa, Toshiki Mizuno, Osamu Onodera

    NEUROLOGY   86 ( 21 )   1964 - 1974   2016.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1212/WNL.0000000000002694

    Web of Science

    PubMed

    researchmap

  • Establishment of a novel animal model of ALS/FTD expressing G4C2 repeat RNA in Drosophila

    Morio Ueyama, Taro Ishiguro, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Keiji Wada, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   90 ( 6 )   366 - 366   2015.12

     More details

    Language:English  

    Web of Science

    researchmap

  • ApoE-isoform-dependent cellular uptake of amyloid-β is mediated by lipoprotein receptor LR11/SorLA. Reviewed International journal

    Ryuji Yajima, Takayoshi Tokutake, Akihide Koyama, Kensaku Kasuga, Toshiyuki Tezuka, Masatoyo Nishizawa, Takeshi Ikeuchi

    Biochemical and biophysical research communications   456 ( 1 )   482 - 8   2015.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.bbrc.2014.11.111

    Web of Science

    PubMed

    researchmap

  • ApoE-isoform-dependent cellular uptake of amyloid-beta is mediated by lipoprotein receptor LR11/SorLA

    Ryuji Yajima, Takayoshi Tokutake, Akihide Koyama, Kensaku Kasuga, Toshiyuki Tezuka, Masatoyo Nishizawa, Takeshi Ikeuchi

    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS   456 ( 1 )   482 - 488   2015.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.bbrc.2014.11.111

    Web of Science

    researchmap

  • Emerging molecular mechanism for cerebral small vessel disease: Lessons from hereditary small vessel disease

    Osamu Onodera, Yumi Sekine, Taisuke Kato, Akihide Koyama, Hiroaki Nozaki, Masatoyo Nishizawa

    NEUROLOGY AND CLINICAL NEUROSCIENCE   3 ( 1 )   7 - 13   2015.1

     More details

  • Establishment of a novel animal model of AILS expressing GGGGCC repeat RNA in Drosophila

    Morio Ueyama, Taro Ishiguro, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Keiji Wada, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   89 ( 6 )   334 - 334   2014.12

     More details

    Language:English  

    Web of Science

    researchmap

  • Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Reviewed International journal

    Takuya Konno, Masayoshi Tada, Mari Tada, Akihide Koyama, Hiroaki Nozaki, Yasuo Harigaya, Jin Nishimiya, Akiko Matsunaga, Nobuaki Yoshikura, Kenji Ishihara, Musashi Arakawa, Aiko Isami, Kenichi Okazaki, Hideaki Yokoo, Kyoko Itoh, Makoto Yoneda, Mitsuru Kawamura, Takashi Inuzuka, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera, Akiyoshi Kakita, Takeshi Ikeuchi

    Neurology   82 ( 2 )   139 - 48   2014.1

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1212/WNL.0000000000000046

    Web of Science

    PubMed

    researchmap

  • Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis. Reviewed International journal

    Tomohiko Ishihara, Yuko Ariizumi, Atsushi Shiga, Taisuke Kato, Chun-Feng Tan, Tatsuya Sato, Yukari Miki, Mariko Yokoo, Takeshi Fujino, Akihide Koyama, Akio Yokoseki, Masatoyo Nishizawa, Akiyoshi Kakita, Hitoshi Takahashi, Osamu Onodera

    Human molecular genetics   22 ( 20 )   4136 - 47   2013.10

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/hmg/ddt262

    Web of Science

    PubMed

    J-GLOBAL

    researchmap

  • Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS): Clinical Characteristics and Molecular Analyses of CSF-1R Reviewed

    Konno Takuya, Tada Masayoshi, Koyama Akihide, Tada Mari, Sugai Akihiro, Nozaki Hiroaki, Matsunaga Akiko, Harigaya Yasuo, Nishimiya Jin, Ishihara Kenji, Yoneda Makoto, Kakita Akiyoshi, Takahashi Hitoshi, Kawamura Mitsuru, Onodera Osamu, Nishizawa Masatoyo, Ikeuchi Takeshi

    NEUROLOGY   80   2013.2

     More details

    Language:English  

    Web of Science

    researchmap

  • What is the key player in TDP-43 pathology in ALS: Disappearance from the nucleus or inclusion formation in the cytoplasm?

    Osamu Onodera, Akihiro Sugai, Takuya Konno, Mari Tada, Akihide Koyama, Masatoyo Nishizawa

    NEUROLOGY AND CLINICAL NEUROSCIENCE   1 ( 1 )   11 - 17   2013.1

     More details

  • 腐敗変色など死後変化を認めた焼死体の一例

    蛭間 有紀子[西川], 高塚 尚和, 舟山 一寿, 川井 悠, 川井 桂, 渡辺 拓, 小林 奏子, 小山 哲秀, 山内 春夫

    法医学の実際と研究   ( 55 )   111 - 115   2012.11

     More details

    Language:Japanese   Publisher:法医学談話会  

    researchmap

  • Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1. Reviewed International journal

    Atsushi Shiga, Hiroaki Nozaki, Akio Yokoseki, Megumi Nihonmatsu, Hirotoshi Kawata, Taisuke Kato, Akihide Koyama, Kunimasa Arima, Mari Ikeda, Shinichi Katada, Yasuko Toyoshima, Hitoshi Takahashi, Akira Tanaka, Imaharu Nakano, Takeshi Ikeuchi, Masatoyo Nishizawa, Osamu Onodera

    Human molecular genetics   20 ( 9 )   1800 - 10   2011.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/hmg/ddr063

    Web of Science

    PubMed

    J-GLOBAL

    researchmap

  • Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Reviewed International journal

    Akio Yokoseki, Tomohiko Ishihara, Akihide Koyama, Atsushi Shiga, Mitsunori Yamada, Chieko Suzuki, Yoshiki Sekijima, Kyoko Maruta, Miyuki Tsuchiya, Hidetoshi Date, Tatsuya Sato, Masayoshi Tada, Takeshi Ikeuchi, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    Brain : a journal of neurology   134 ( Pt 5 )   1387 - 99   2011.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/brain/awr069

    Web of Science

    PubMed

    J-GLOBAL

    researchmap

  • Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-beta 1 via cleavage of proTGF-beta 1

    Atsushi Shiga, Hiroaki Nozaki, Akio Yokoseki, Megumi Nihonmatsu, Hirotoshi Kawata, Taisuke Kato, Akihide Koyama, Kunimasa Arima, Mari Ikeda, Shinichi Katada, Yasuko Toyoshima, Hitoshi Takahashi, Akira Tanaka, Imaharu Nakano, Takeshi Ikeuchi, Masatoyo Nishizawa, Osamu Onodera

    HUMAN MOLECULAR GENETICS   20 ( 9 )   1800 - 1810   2011.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/hmg/ddr063

    Web of Science

    researchmap

  • Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

    Akio Yokoseki, Tomohiko Ishihara, Akihide Koyama, Atsushi Shiga, Mitsunori Yamada, Chieko Suzuki, Yoshiki Sekijima, Kyoko Maruta, Miyuki Tsuchiya, Hidetoshi Date, Tatsuya Sato, Masayoshi Tada, Takeshi Ikeuchi, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    BRAIN   134   1387 - 1399   2011.5

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/brain/awr069

    Web of Science

    researchmap

  • Increased TGF-beta Signaling Underlies the Pathogenesis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) Reviewed

    Hiroaki Nozaki, Atushi Shiga, Hirotoshi Kawata, Kunimasa Arima, Kenju Hara, Toshio Fukutake, Akio Yokoseki, Akihide Koyama, Toshiaki Takahashi, Mari Ikeda, Akira Tanaka, Imaharu Nakano, Shu-ichi Ikeda, Tadashi Yamamoto, Takeshi Ikeuchi, Masatoyo Nishizawa, Shoji Tsuji, Osamu Onodera

    NEUROLOGY   74 ( 9 )   A445 - A445   2010.3

     More details

    Language:English  

    Web of Science

    researchmap

  • Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. Reviewed International journal

    Kenju Hara, Atsushi Shiga, Toshio Fukutake, Hiroaki Nozaki, Akinori Miyashita, Akio Yokoseki, Hirotoshi Kawata, Akihide Koyama, Kunimasa Arima, Toshiaki Takahashi, Mari Ikeda, Hiroshi Shiota, Masato Tamura, Yutaka Shimoe, Mikio Hirayama, Takayo Arisato, Sohei Yanagawa, Akira Tanaka, Imaharu Nakano, Shu-ichi Ikeda, Yutaka Yoshida, Tadashi Yamamoto, Takeshi Ikeuchi, Ryozo Kuwano, Masatoyo Nishizawa, Shoji Tsuji, Osamu Onodera

    The New England journal of medicine   360 ( 17 )   1729 - 39   2009.4

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1056/NEJMoa0801560

    Web of Science

    PubMed

    J-GLOBAL

    researchmap

  • TDP-43 mutation in familial amyotrophic lateral sclerosis. Reviewed International journal

    Akio Yokoseki, Atsushi Shiga, Chun-Feng Tan, Asako Tagawa, Hiroyuki Kaneko, Akihide Koyama, Hiroto Eguchi, Akira Tsujino, Takeshi Ikeuchi, Akiyoshi Kakita, Koichi Okamoto, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera

    Annals of neurology   63 ( 4 )   538 - 42   2008.4

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/ana.21392

    Web of Science

    PubMed

    J-GLOBAL

    researchmap

  • TDP-43 mutation in familial amyotrophic lateral sclerosis

    Akio Yokoseki, Atsushi Shiga, Chun-Feng Tan, Asako Tagawa, Hiroyuki Kaneko, Akihide Koyama, Hiroto Eguchi, Akira Tsujino, Takeshi Ikeuchi, Akiyoshi Kakita, Koichi Okamoto, Masatoyo Nishizava, Hitoshi Takahashi, Osamu Onodera

    ANNALS OF NEUROLOGY   63 ( 4 )   538 - 542   2008.4

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/ana.21392

    Web of Science

    researchmap

  • TDP-43 mutation in familial amyotrophic lateral sclerosis Reviewed

    Akio Yokoseki, Atsushi Shiga, Chun Feng Tan, Asako Tagawa, Hiroyuki Kaneko, Akihide Koyama, Hiroto Eguchi, Akira Tsujino, Takeshi Ikeuchi, Akiyoshi Kakita, Koichi Okamoto, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera

    NEUROSCIENCE RESEARCH   61   S267 - S267   2008

     More details

    Language:English  

    Web of Science

    researchmap

  • TDP-43 mutation in familial amyotrophic lateral sclerosis

    Akio Yokoseki, Atsushi Shiga, Chun Feng Tan, Asako Tagawa, Hiroyuki Kaneko, Akihide Koyama, Hiroto Eguchi, Akira Tsujino, Takeshi Ikeuchi, Akiyoshi Kakita, Koichi Okamoto, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera

    NEUROSCIENCE RESEARCH   61   S267 - S267   2008

     More details

    Language:English  

    Web of Science

    researchmap

  • Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3 '-phosphate and 3 '-phosphoglycolate ends

    Tetsuya Takahashi, Masayoshi Tada, Shuichi Igarashi, Akihide Koyama, Hidetoshi Date, Akio Yokoseki, Atsushi Shiga, Yutaka Yoshida, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    NUCLEIC ACIDS RESEARCH   35 ( 11 )   3797 - 3809   2007.6

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/nar/gkm158

    Web of Science

    researchmap

  • Aprataxin, the causative gene product for AOA1/EAOH, repairs damaged 3'-ends of DNA single strand breaks

    Masayoshi Tada, Akihide Koyama, Shuichi Igarashi, Akio Yokoseki, Tetsuya Takahashi, Atsushi Shiga, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    NEUROLOGY   68 ( 12 )   A79 - A79   2007.3

     More details

    Language:English  

    Web of Science

    researchmap

  • Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Reviewed International journal

    Tetsuya Takahashi, Masayoshi Tada, Shuichi Igarashi, Akihide Koyama, Hidetoshi Date, Akio Yokoseki, Atsushi Shiga, Yutaka Yoshida, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    Nucleic acids research   35 ( 11 )   3797 - 809   2007

     More details

    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/nar/gkm158

    Web of Science

    PubMed

    CiNii Article

    J-GLOBAL

    researchmap

▶ display all

MISC

  • 神経皮膚黒色症剖検例における多領域ゲノム解析

    高橋 陽彦, 棗田 学, 塚本 佳広, 岡田 正康, 原 範和, 小山 哲秀, 宮下 哲典, 結城 明彦, 清水 宏, 柿田 明美, 池内 健, 大石 誠

    小児の脳神経   49 ( 2 )   228 - 228   2024.4

     More details

    Language:Japanese   Publisher:(一社)日本小児神経外科学会  

    researchmap

  • 【オートプシー・イメージング 2024】新潟大学における死後CT導入による実情と課題

    小山 哲秀, 舟山 一寿, 葛城 梨江香, 渡辺 拓, 青山 崇, 高橋 直也, 高塚 尚和

    Rad Fan   22 ( 3 )   58 - 61   2024.2

     More details

    Language:Japanese   Publisher:(株)メディカルアイ  

    researchmap

  • TDP-43は運動回路の変性を誘導するために異なって伝播する(TDP-43 differentially propagates to induce degeneration in the motor circuit)

    坪口 晋太朗, 中村 由香, 石原 智彦, 加藤 泰介, 佐藤 時春, 小山 哲秀, 森 秀樹, 小池 佑佳, 小野寺 理, 上野 将紀

    Dementia Japan   37 ( 4 )   680 - 680   2023.10

     More details

    Language:English   Publisher:(一社)日本認知症学会  

    researchmap

  • 災害時に即応可能な迅速PCR検査の確立

    小山 哲秀, 和泉 邦彦, 高塚 尚和, 高橋 昌

    Japanese Journal of Disaster Medicine   27 ( Suppl.2 )   247 - 247   2023.4

     More details

    Language:Japanese   Publisher:(一社)日本災害医学会  

    researchmap

  • TDP-43は運動回路の変性を誘導するために異なって伝播する(TDP-43 differentially propagates to induce degeneration in the motor circuit)

    坪口 晋太朗, 中村 由香, 石原 智彦, 加藤 泰介, 佐藤 時春, 小山 哲秀, 森 秀樹, 小池 佑佳, 小野寺 理, 上野 将紀

    Dementia Japan   37 ( 4 )   680 - 680   2023

     More details

    Language:English   Publisher:(一社)日本認知症学会  

    J-GLOBAL

    researchmap

  • 硝子体液中エクソソームの解析と展望

    小山 哲秀, 葛城 梨江香, 原田 夏美, 渡辺 拓, 青山 崇, 舟山 一寿, 高塚 尚和

    日本法医学雑誌   74 ( 2 )   136 - 136   2020.12

     More details

    Language:Japanese   Publisher:(NPO)日本法医学会  

    researchmap

  • 液滴デジタルPCRはSNPsの検出に極めて有用である(Droplet digital PCR is extremely useful for SNPs detection)

    原田 夏実, 小山 哲秀, 舟山 一寿, 葛城 梨江香, 青山 崇, 渡辺 拓, 樋口 涼子, 高橋 直也, 高塚 尚和

    日本法医学雑誌   74 ( 1 )   99 - 99   2020.8

     More details

    Language:English   Publisher:(NPO)日本法医学会  

    researchmap

  • Spreading of TDP-43 via direct corticospinal connections in mouse models

    TSUBOGUCHI Shintaro, NAKAMURA Yuka, ISHIHARA Tomohiko, KATO Taisuke, KOYAMA Akihide, SATO Tokiharu, YOSHIDA Yutaka, UENO Masaki, ONODERA Osamu

    日本神経学会学術大会プログラム・抄録集   61st   2020

  • C9-ALS/FTDモデルショウジョウバエにおけるリピート関連非ATG翻訳の制御

    上山 盛夫, 石黒 太郎, Gendron Tania F, 今野 卓哉, 小山 哲秀, 和田 圭司, 石川 欣也, 小野寺 理, Petrucelli Leonard, 永井 義隆

    Dementia Japan   33 ( 4 )   551 - 551   2019.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • 長期保存サンプル中のゲノムDNAはミトコンドリアDNAよりも断片化の影響を受ける

    小山 哲秀, 舟山 一寿, 葛城 梨江香, 原田 夏美, 青山 崇, 渡辺 拓, 高塚 尚和

    日本法医学雑誌   73 ( 1 )   92 - 92   2019.5

     More details

    Language:Japanese   Publisher:(NPO)日本法医学会  

    researchmap

  • 北朝鮮籍と考えられる漂着遺体に見られる法歯学的特徴

    葛城 梨江香, 原田 夏美, 渡辺 拓, 青山 崇, 小山 哲秀, 舟山 一寿, 高橋 直也, 高塚 尚和

    日本法医学雑誌   73 ( 1 )   95 - 95   2019.5

     More details

    Language:Japanese   Publisher:(NPO)日本法医学会  

    researchmap

  • IDH変異型グリオーマの診断と術中治療―コラボレーションを通して実現を目指す―

    棗田学, 阿部英明, 岡田正康, 五十嵐博中, 中田力, 小山哲秀, 小野寺理, 柿田明美, 大石誠, 藤井幸彦

    日本蛋白質科学会年会プログラム・要旨集   18th   25   2018.5

     More details

    Language:Japanese  

    J-GLOBAL

    researchmap

  • 家族性脳小血管病患者で報告された変異型HTRA1蛋白質の機能解析

    上村 昌寛, 野崎 洋明, 加藤 泰介, 小山 哲秀, 小野寺 理

    生命科学系学会合同年次大会   2017年度   [1P - 1241]   2017.12

     More details

    Language:English   Publisher:生命科学系学会合同年次大会運営事務局  

    researchmap

  • ALS原因遺伝子TDP-43の点変異によるアレル特異的遺伝子発現の変化

    須貝 章弘, 廣川 祥子, 小山 哲秀, 今野 卓哉, 小野寺 理

    生命科学系学会合同年次大会   2017年度   [3P - 1118]   2017.12

     More details

    Language:Japanese   Publisher:生命科学系学会合同年次大会運営事務局  

    J-GLOBAL

    researchmap

  • 家族性脳小血管病患者で報告された変異型HTRA1蛋白質の機能解析

    上村 昌寛, 野崎 洋明, 加藤 泰介, 小山 哲秀, 小野寺 理

    生命科学系学会合同年次大会   2017年度   [1P - 1241]   2017.12

     More details

    Language:English   Publisher:生命科学系学会合同年次大会運営事務局  

    researchmap

  • 毛髪胃石を認めた男性の一剖検例

    舟山 一寿, 青山 崇, 渡辺 拓, 樋口 涼子, 小山 哲秀, 高塚 尚和

    法医学の実際と研究   ( 60 )   123 - 127   2017.11

     More details

    Language:Japanese   Publisher:法医学談話会  

    researchmap

  • RVCL関連変異の細胞内局在についての検討

    笠原 杏子, 加藤 泰介, 野崎 洋明, 小山 哲秀, 小野寺 理

    Dementia Japan   31 ( 4 )   572 - 572   2017.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • SMN遺伝子欠失は日本における下位運動ニューロン疾患の発症リスクと関連する(SMN gene deletion is associated with developing risk of lower motor neuron disease in Japan)

    豊田 佐織, 石原 智彦, 小山 哲秀, 西澤 正豊, 小野寺 理

    臨床神経学   56 ( Suppl. )   S230 - S230   2016.12

     More details

    Language:English   Publisher:(一社)日本神経学会  

    researchmap

  • Toxicity of dipeptide repeat proteins in C9 ALS/FTD model fly

    Morio Ueyama, Taro Ishiguro, Tania F. Gendron, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Kinya Ishikawa, Keiji Wada, Leonard Petrucelli, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   91 ( 6 )   365 - 365   2016.12

     More details

    Language:English   Publishing type:Research paper, summary (international conference)  

    Web of Science

    researchmap

  • C9ALS/FTDモデルショウジョウバエにおけるジペプチドリピートタンパク質の毒性

    上山盛夫, 上山盛夫, 石黒太郎, 石黒太郎, 石黒太郎, TANIA Gendron, 藤掛伸宏, 今野卓哉, 小山哲秀, 小野寺理, 石川欣也, 和田圭司, LEONARD Petrucelli, 永井義隆, 永井義隆

    日本遺伝学会大会プログラム・予稿集   88th   2016

  • Establishment of a novel animal model of ALS/FTD expressing G4C2 repeat RNA in Drosophila

    Morio Ueyama, Taro Ishiguro, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Keiji Wada, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   90 ( 6 )   366 - 366   2015.12

     More details

    Language:English   Publishing type:Research paper, summary (international conference)  

    Web of Science

    researchmap

  • 異常タンパク伝播仮説に基づく神経疾患の画期的治療法の開発 ALSではいつ細胞障害が始まるのか?TDP-43陽性封入体との関係

    小野寺理, 須貝章弘, 小山哲秀, 加藤泰介, 志賀篤, 今野卓哉, 小山美咲, 石原智彦, 西澤正豊

    異常タンパク伝播仮説に基づく神経疾患の画期的治療法の開発 平成26年度 総括・分担研究報告書   2015

  • G4C2リピートRNAを発現する新規ALS/FTDモデルショウジョウバエの樹立

    上山盛夫, 石黒太郎, 石黒太郎, 藤掛伸宏, 今野卓哉, 小山哲秀, 小野寺理, 和田圭司, 永井義隆

    日本遺伝学会大会プログラム・予稿集   87th   2015

  • HDLSはCSF-1Rの機能喪失で生じる シグナル伝達障害とハプロ不全

    勇 亜衣子, 今野 卓哉, 他田 正義, 他田 真理, 小山 哲秀, 野崎 洋明, 金田 大太, 田代 裕一, 山本 徹, 高橋 均, 西澤 正豊, 小野寺 理, 柿田 明美, 池内 健

    臨床神経学   54 ( Suppl. )   S8 - S8   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • Establishment of a novel animal model of AILS expressing GGGGCC repeat RNA in Drosophila

    Morio Ueyama, Taro Ishiguro, Nobuhiro Fujikake, Takuya Konno, Akihide Koyama, Osamu Onodera, Keiji Wada, Yoshitaka Nagai

    GENES & GENETIC SYSTEMS   89 ( 6 )   334 - 334   2014.12

     More details

    Language:English   Publishing type:Research paper, summary (international conference)  

    Web of Science

    researchmap

  • ALS関連TARDBP遺伝子変異は自身の選択的スプライシングに影響をおよぼすか?

    今野 卓哉, 小山 哲秀, 逸見 文昭, 小山 美咲, 須貝 章弘, 加藤 泰介, 石原 智彦, 西澤 正豊, 小野寺 理

    臨床神経学   54 ( Suppl. )   S200 - S200   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • TDP-43発現低下時におけるミトコンドリア・ダイナミクスの検討

    伊藤 岳, 小山 哲秀, 有泉 優子, 西澤 正豊, 小野寺 理

    臨床神経学   54 ( Suppl. )   S200 - S200   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 核内TDP-43減少は細胞質内TDP-43 mRNA増加をもたらす

    須貝 章弘, 小山 哲秀, 加藤 泰介, 今野 卓哉, 石原 智彦, 西澤 正豊, 小野寺 理

    臨床神経学   54 ( Suppl. )   S62 - S62   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • ALSでのStasimonヒトホモログmRNAのスプライシング異常の検討

    石原 智彦, 志賀 篤, 小山 哲秀, 柿田 明美, 西澤 正豊, 高橋 均, 小野寺 理

    臨床神経学   54 ( Suppl. )   S99 - S99   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • リポ蛋白受容体LR11によるApoE isoform依存性のApoE-Aβ複合体代謝調節機構の解析

    矢島 隆二, 徳武 孝允, 小山 哲秀, 手塚 敏之, 春日 健作, 西澤 正豊, 池内 健

    臨床神経学   54 ( Suppl. )   S183 - S183   2014.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • HTRA1変異ヘテロ接合者における脳小血管病の発症機序

    野崎 洋明, 加藤 泰介, 齊藤 洋兵, 小山 哲秀, 西澤 正豊, 小野寺 理

    Dementia Japan   28 ( 4 )   475 - 475   2014.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • 朝鮮半島・中国大陸方面から漂着したと考えられる事例

    舟山 一寿, 小幡 泰晴, 川井 桂, 蛭間 有紀子, 渡辺 拓, 川井 悠, 小林 奏子, 原田 夏美, 嶋田 雄太, 小山 哲秀, 高塚 尚和, 山内 春夫

    日本法医学雑誌   68 ( 1 )   227 - 227   2014.5

     More details

    Language:Japanese   Publisher:(NPO)日本法医学会  

    researchmap

  • GGGGCCリピートRNAを発現する新規ALSモデルショウジョウバエの樹立と病態解析

    上山盛夫, 石黒太郎, 藤掛伸宏, 今野卓哉, 小山哲秀, 小野寺理, 和田圭司, 永井義隆

    日本遺伝学会大会プログラム・予稿集   86th   2014

  • 神経変性疾患に関する調査研究 TDP-43 mRNAのポリA選択とスプライシングを介した自己蛋白量の制御機構

    小野寺理, 須貝章弘, 小山哲秀, 加藤泰介, 志賀篤, 今野卓哉, 小山美咲, 石原智彦, 西澤正豊

    神経変性疾患に関する調査研究 平成25年度 総括・分担研究報告書   2014

  • 異常タンパク伝播仮説に基づく神経疾患の画期的治療法の開発 TDP-43量は自己mRNAのpolyA選択,スプライシング,核貯留の協働により制御される

    須貝章弘, 小山哲秀, 加藤泰介, 志賀篤, 今野卓哉, 小山美咲, 石原智彦, 西澤正豊, 小野寺理

    異常タンパク伝播仮説に基づく神経疾患の画期的治療法の開発 平成25年度 総括・分担研究報告書   2014

  • Dominant negative効果をもつ変異型HTRA1はヘテロ接合体でも脳小血管病を引き起こす

    野崎 洋明, 斉藤 洋平, 二本松 萌, 小山 哲秀, 加藤 泰介, 西澤 正豊, 小野寺 理

    臨床神経学   53 ( 12 )   1540 - 1540   2013.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • TDP-43量はTDP-43に惹起される自己mRNAのスプライシングで制御される

    須貝 章弘, 小山 哲秀, 今野 卓哉, 加藤 泰介, 西澤 正豊, 小野寺 理

    臨床神経学   53 ( 12 )   1411 - 1411   2013.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 神経軸索スフェロイドを伴う白質脳症HDLSの臨床・遺伝学的解析

    他田 正義, 今野 卓哉, 他田 真理, 荒川 武蔵, 小山 哲秀, 野崎 洋明, 針谷 康夫, 西宮 仁, 松永 晶子, 米田 誠, 吉倉 延亮, 犬塚 貴, 石原 健司, 河村 満, 高橋 均, 小野寺 理, 西澤 正豊, 池内 健

    臨床神経学   53 ( 12 )   1529 - 1529   2013.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 筋萎縮性側索硬化症の脊髄前角細胞におけるCajal小体数の減少

    横関 明男, 譚 春鳳, 石原 智彦, 志賀 篤, 小山 哲秀, 佐藤 達哉, 高橋 均, 西澤 正豊, 小野寺 理

    臨床神経学   53 ( 12 )   1568 - 1568   2013.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 神経軸索スフェロイドを伴う白質脳症HDLSにおけるCSF1Rシグナル伝達異常の解析

    今野 卓哉, 他田 正義, 小山 哲秀, 他田 真理, 荒川 武蔵, 野崎 洋明, 針谷 康夫, 西宮 仁, 松永 晶子, 米田 誠, 吉倉 延亮, 犬塚 貴, 石原 健司, 河村 満, 高橋 均, 小野寺 理, 西澤 正豊, 池内 健

    臨床神経学   53 ( 12 )   1529 - 1529   2013.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 腐敗変色など死後変化を認めた焼死体の一例

    蛭間 有紀子[西川], 高塚 尚和, 舟山 一寿, 渡辺 拓, 小山 哲秀, 川井 桂, 川井 悠, 小林 奏子, 原田 夏実, 山内 春夫

    日本法医学雑誌   67 ( 2 )   154 - 154   2013.12

     More details

    Language:Japanese   Publisher:(NPO)日本法医学会  

    researchmap

  • 神経軸索スフェロイドを伴う白質脳症HDLSの病態解析 ハプロ不全とCSF1Rシグナル障害

    今野 卓哉, 他田 正義, 他田 真理, 小山 哲秀, 野崎 洋明, 高橋 均, 西澤 正豊, 小野寺 理, 柿田 明美, 池内 健

    Dementia Japan   27 ( 4 )   491 - 491   2013.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • 神経軸索スフェロイドを伴う白質脳症HDLSの臨床・画像・遺伝学的解析

    他田 正義, 今野 卓哉, 他田 真理, 小山 哲秀, 野崎 洋明, 高橋 均, 西澤 正豊, 小野寺 理, 柿田 明美, 池内 健

    Dementia Japan   27 ( 4 )   490 - 490   2013.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    J-GLOBAL

    researchmap

  • HDLS(hereditary diffuse leukoencephalopathy with spheroids)のMRI所見

    今野 卓哉, 須貝 章弘, 西澤 正豊, 他田 正義, 小野寺 理, 他田 真理, 野崎 洋明, 小山 哲秀, 池内 健

    新潟医学会雑誌   127 ( 6 )   334 - 334   2013.6

  • 7 HDLS(hereditary diffuse leukoencephalopathy with spheroids)のMRI所見(Ⅰ.一般演題, 第67回新潟画像医学研究会)

    新潟医学会雑誌   127 ( 6 )   334 - 334   2013.6

  • HDLS患者関連colony stimulating factor-1receptor(CSF-1R)変異体によるCSF-1R介在シグナル伝達障害

    勇亜衣子, 今野卓哉, 他田正義, 小山哲秀, 西澤正豊, 小野寺理, 池内健

    日本分子生物学会年会プログラム・要旨集(Web)   36th   2013

  • 筋萎縮性側索硬化症の分子病態解明と新規治療法創出に関する研究 TDP-43 mRNAの制御機構

    小野寺理, 小山哲秀, 須貝章弘, 今野卓哉, 小山美咲, 石原智彦, 西澤正豊

    筋萎縮性側索硬化症の分子病態解明と新規治療法創出に関する研究 平成22-24年度 総合研究報告書   2013

  • 筋萎縮性側索硬化症の分子病態解明と新規治療法創出に関する研究 TDP-43 mRNAの制御機構

    小野寺理, 小山哲秀, 須貝章弘, 今野卓哉, 小山美咲, 石原智彦, 西澤正豊

    筋萎縮性側索硬化症の分子病態解明と新規治療法創出に関する研究 平成24年度 総括・分担研究報告書   2013

  • 片側アリルにのみHTRA1ミスセンス変異を有する例でも脳小血管病を引き起こす

    野崎 洋明, 二本松 萌, 斎藤 洋兵, 針生 真弥, 水野 敏樹, 水田 依久子, 志賀 篤, 小山 哲秀, 加藤 泰介, 野田 智子, 垣内 無一, 伊藤 彰一, 西澤 正豊, 小野寺 理

    臨床神経学   52 ( 12 )   1400 - 1400   2012.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • ポリグルタミン重合体形成阻害剤のスクリーニングを目的としたモデル線虫の構築

    徳永 純, 他田 正義, 高橋 俊昭, 高橋 有香, 鹿野 智美, 小山 哲秀, 堅田 慎一, 山中 邦俊, 小野寺 理, 西澤 正豊

    臨床神経学   52 ( 12 )   1556 - 1556   2012.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 若年性認知症を呈する白質脳症 HDLS患者のCSF1R変異、MRI所見、臨床像、病理像の検討

    今野 卓哉, 他田 正義, 小山 哲秀, 荒川 武蔵, 岡崎 健一, 柿田 明美, 高橋 均, 西澤 正豊, 小野寺 理, 池内 健

    Dementia Japan   26 ( 4 )   472 - 472   2012.10

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    J-GLOBAL

    researchmap

  • HDLSの分子病態と白質を主病変とする他疾患との異同

    池内健, 今野卓哉, 他田正義, 荒川武蔵, 岡崎健一, 小山哲秀, 酒井直子, 野崎洋明, 徳永純, 河内泉, 柿田明美, 高橋均, 西澤正豊, 小野寺理

    日本神経学会学術大会プログラム・抄録集   53rd   2012

  • 神経変性疾患に関する調査研究 RNA代謝異常の観点から TDP-43の自己調節機能の観点からのALSの病態機序の考察

    小野寺理, 横関明男, 有泉優子, 佐藤達哉, 近藤千草, 石原智彦, 桑原美咲, 今野拓也, 加藤泰介, 西澤正豊, 小山哲秀, 志賀篤, 譚春風, 豊島靖子, 高橋均, 廣川祥子, 佐藤俊哉, 横山峰介

    神経変性疾患に関する調査研究 平成23年度 総括・分担研究報告書   2012

  • ALS関連蛋白TDP-43の自己発現調節機能に関与するスプライシング因子の検討

    桑原美咲, 石原智彦, 志賀篤, 今野卓哉, 小山哲秀, 西澤正豊, 小野寺理

    日本分子生物学会年会プログラム・要旨集(Web)   34th   2011

  • 疾患関連変異型APTXの蛋白不安定化機序の解明

    佐藤 達哉, 小山 哲秀, 横関 明男, 他田 正義, 小野寺 理, 西澤 正豊

    臨床神経学   49 ( 12 )   982 - 982   2009.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • Aprataxinは神経細胞においてDNA単鎖切断損傷修復に関与する

    他田 正義, 佐藤 達哉, 横関 明男, 小山 哲秀, 志賀 篤, 高橋 哲哉, 小宅 睦郎, 五十嵐 修一, 佐藤 俊哉, 辻 省次, 西澤 正豊, 小野寺 理

    臨床神経学   48 ( 12 )   1120 - 1120   2008.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 1 疾患関連変異型アプラタキシンの核小体局在障害とその機序の解明(I.一般演題,第8回新潟ゲノム医学研究会)

    新潟医学会雑誌   122 ( 12 )   690 - 690   2008.12

     More details

  • 疾患関連変異型アプラタキシンの核小体局在障害とその機序の解明

    佐藤 達哉, 小山 哲秀, 横関 明男, 他田 正義, 小野寺 理, 西澤 正豊

    臨床神経学   48 ( 12 )   1117 - 1117   2008.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • AOA1/EAOHの病態機序における核小体局在の意義

    小野寺 理, 小山 哲秀, 横関 明男, 他田 正義, 間 由希, 五十嵐 修一, 西澤 正豊

    臨床神経学   47 ( 12 )   1131 - 1131   2007.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • γセクレターゼによるインスリン受容体の膜内切断および細胞内局在の検討

    春日 健作, 池内 健, 金子 博之, 小山 哲秀, 他田 正義, 西澤 正豊, 小野寺 理

    臨床神経学   47 ( 12 )   1011 - 1011   2007.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • Aprataxin, the causative gene product for AOA1/EAOH, repairs damaged 3'-ends of DNA single strand breaks

    Masayoshi Tada, Akihide Koyama, Shuichi Igarashi, Akio Yokoseki, Tetsuya Takahashi, Atsushi Shiga, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

    NEUROLOGY   68 ( 12 )   A79 - A79   2007.3

     More details

    Language:English   Publishing type:Research paper, summary (international conference)  

    Web of Science

    researchmap

  • Aprataxinは損傷一本鎖DNAの3'-ブロックを解除する

    他田 正義, 高橋 哲哉, 五十嵐 修一, 横関 明男, 志賀 篤, 小山 哲秀, 伊達 英俊, 辻 省次, 西澤 正豊, 小野寺 理

    臨床神経学   46 ( 12 )   1111 - 1111   2006.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • Aprataxin(APTX)のDNA損傷ストレスにおける核内局在の変化に関する検討

    五十嵐 修一, 小山 哲秀, 他田 正義, 高橋 哲哉, 高橋 俊昭, 小野寺 理, 西澤 正豊

    臨床神経学   46 ( 12 )   1148 - 1148   2006.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • アプラタキシンのRNAに対する機能の解析

    横関 明男, 他田 正義, 小山 哲秀, 志賀 篤, 高橋 哲哉, 五十嵐 修一, 西澤 正豊, 小野寺 理

    臨床神経学   46 ( 12 )   1148 - 1148   2006.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • Presenilin/γ-secretaseによるインスリン受容体の切断および細胞内局在に及ぼす影響

    春日 健作, 池内 健, 金子 博之, 小山 哲秀, 西澤 正豊, 小野寺 理

    Dementia Japan   20 ( 2 )   172 - 172   2006.8

     More details

    Language:Japanese   Publisher:(一社)日本認知症学会  

    researchmap

  • Aprataxin(APTX)の生理機能 細胞内局在の検討

    五十嵐 修一, 小山 哲秀, 高橋 哲哉, 高橋 俊昭, 小野寺 理, 西澤 正豊

    臨床神経学   45 ( 12 )   1103 - 1103   2005.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • aprataxinはDNA修復において校正機能を担うのか?

    他田 正義, 高橋 哲哉, 五十嵐 修一, 志賀 篤, 小山 哲秀, 高野 弘基, 小宅 睦朗, 池内 健, 辻 省次, 西澤 正豊, 小野寺 理

    臨床神経学   45 ( 12 )   1103 - 1103   2005.12

     More details

    Language:Japanese   Publisher:(一社)日本神経学会  

    researchmap

  • 脊髄小脳変性症はapratoxinというタンパク質をつくるが,これは3'-5'エキソヌクレアーゼである(Spinocerebellar degeneration caused protein, aprataxin, is a 3'-5' exonuclease)

    他田 正義, 高橋 哲哉, 五十嵐 修一, 伊達 英俊, 小山 哲秀, 志賀 篤, 高野 弘基, 小宅 睦郎, 辻 省次, 西澤 正豊, 小野寺 理

    神経化学   44 ( 2-3 )   198 - 198   2005.8

     More details

    Language:English   Publisher:日本神経化学会  

    researchmap

▶ display all

Awards

  • 新型コロナウイルス感染拡大防止に関する協力支援

    2023.5   新潟県  

     More details

  • ワークショップ 若手優秀発表賞

    2013.9   包括型脳科学研究推進支援ネットワーク  

    小山哲秀

     More details

Research Projects

  • サルマラリア高度流行地におけるヒト感染リスク調査と本邦の水際対策強化に資する研究開発

    Grant number:25130432

    2025.4 - 2028.3

    System name:日本医療研究開発機構研究費

    Awarding organization:国立研究開発法人日本医療研究開発機構

    案浦 健, 宮部貴子, 荒木球沙, 堀場千尋, 小山哲秀

      More details

  • Infection dynamics of the Schistosoma japonicum using a high-precision environmental analysis approach.

    Grant number:24KK0176

    2024.9 - 2027.3

    System name:Grants-in-Aid for Scientific Research

    Research category:Fund for the Promotion of Joint International Research(International Collaborative Research)

    Awarding organization:Japan Society for the Promotion of Science

    Marcello Otake Sato, Yasuhiko Sako, Megumi Sato, Akihide Koyama, Emilie Takahashi

      More details

    Grant amount:\20800000 ( Direct Cost: \16000000 、 Indirect Cost:\4800000 )

    researchmap

  • コロナ禍及び災害時における迅速臨時検査室の確立

    Grant number:22K17302

    2022.4 - 2024.3

    System name:科学研究費助成事業

    Research category:若手研究

    Awarding organization:日本学術振興会

    小山 哲秀

      More details

    Grant amount:\4550000 ( Direct Cost: \3500000 、 Indirect Cost:\1050000 )

    必要な時にPCR検査を実施できる迅速検査室システムの構築を行う。コロナ禍における感染症対策は進んでいるが、①地方における問題点として、遠隔地や島内におけるクラスターの発生による急激な検査数の増加に対処が出来ないこと、②震災大国日本における避難所等の“検査体制”に関しては具体的な方策が無い。本研究では、高性能小型PCR装置をはじめとする最新機器を利用した“ヒトと機器が移動するPCR検査所の設置”というコンパクト且つ迅速な検査室の実現を目指す。
    2022年度はシステムの確立と実運用の検証を行った。まず持ち運び可能なシステムの構築をするために機器の選定を進めた。PCR装置は持ち運びに適していたBMS社MIC qPCR cyclerと、既存機器であるThermo Fishier Scientific社QuantStudio5の比較検討を実施し、ほぼ同等の精度であることが確認された。RNAの抽出に関しては、A4用紙程度の大きさであるGENOLUTION社のNextractor NX-48と用手法の比較検討を行い、こちらも同等の精度であることが確認された。これら機器を用いて、新潟県佐渡市で発生した特別養護老人ホームでのクラスター対策において新潟県の了承を得た上で出張検査を実施した。事前に行われた抗原検査において全対象者が陰性であったが、PCR検査によって2名の陽性者を確認した。本検討によって、早期感染におけるクラスター対策には、抗原検査のすり抜けを防止する面において、一定の効果があることが示された。また、地理的に検査が十分に行うことができない地域において、出張PCR検査は、行政とコミュニケーションを取れることで、速やかな方針決定をする一助になると考えられた。

    researchmap

  • Development of geographical area prediction model based on human hair and tap water stable isotope

    Grant number:19K19484

    2019.4 - 2022.3

    System name:Grants-in-Aid for Scientific Research

    Research category:Grant-in-Aid for Early-Career Scientists

    Awarding organization:Japan Society for the Promotion of Science

    KOYAMA AKIHIDE

      More details

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    The purpose of this study was to develop a tool to predict human geographic residence based on the stable isotopic composition of human hair and tap water. In this study, we developed a method to narrow down the candidate pool. In this study, the purpose of the research was to narrow down the candidates by focusing on the stable isotopes of oxygen and hydrogen in hair and tap water. As a result, we were able to create an extremely high-resolution tap water isotope map. This result can be an extremely important resource for estimating the location of habitation. Furthermore, the results of stable isotope ratios of hair and bones suggest that the use of stable isotope ratios may be useful for identity estimation.

    researchmap

  • Strategies for overcoming vascular dementia focusing on dynamic functions of cerebral small vessels.

    Grant number:16H02656

    2016.4 - 2019.3

    System name:Grants-in-Aid for Scientific Research

    Research category:Grant-in-Aid for Scientific Research (A)

    Awarding organization:Japan Society for the Promotion of Science

    Onodera Osamu

      More details

    Grant amount:\46670000 ( Direct Cost: \35900000 、 Indirect Cost:\10770000 )

    Overcoming dementia is an urgent task, and vascular dementia is one of the leading causes. Recently, a cerebral small vessel is noted and is called cerebral small vessel disease. Disorders of neural activity-dependent blood supply regulatory mechanisms have been advocated as the pathological condition. However, its molecular mechanism has not been well characterized. We isolated the causative gene for hereditary cerebral small vessel disease, HTRA1, and clarified that this disease is due to an increase in tissue growth factor signal. Furthermore, we defined the molecular pathogenesis of cerebral small vessel disease in mice with degeneration of smooth muscle and pericytes similar to sporadic cerebrovascular disease.

    researchmap

  • Crosstalk between stress granules and autophagy in protein degradation

    Grant number:15H04704

    2015.4 - 2018.3

    System name:Grants-in-Aid for Scientific Research

    Research category:Grant-in-Aid for Scientific Research (B)

    Awarding organization:Japan Society for the Promotion of Science

    Fujii Masahiro, Komatsu Masaaki, Takahashi Masahiko, Kageyama Shun, Hara Toshifumi, Higuchi Masaya, Saito Kousuke, Koyama Akihide, Katsuragi Yoshinori, Kakihana Taichi

      More details

    Grant amount:\16900000 ( Direct Cost: \13000000 、 Indirect Cost:\3900000 )

    USP10 plays an important role in the formation of stress granule. I established systemic USP10-knockout (USP10-KO) mice. USP10-KO mice developed pancytopenia, and died within 300 days. This pancytopenia was completely restored by transplantation of normal bone marrows into USP10-KO mice. Furthermore, I found that apoptosis of hematopoietic stem cells is aggravated in USP10-KO mice. SCL (stem cell factor) inhibits the apoptosis of hematopoietic stem cells, but this inhibition was significantly attenuated by USP10 depletion in hematopoietic stem cells. USP10 mutants indicated that deubiquitinase activity of USP10 is critical for inhibition of apoptosis of hematopoietic stem cells. The present study suggests that USP10 and stress granules participate in the maintenance of hematopoietic stem cells.

    researchmap

  • Approach to cerebral small vessel disease: lesson from CARASIL.

    Grant number:25293200

    2013.4 - 2016.3

    System name:Grants-in-Aid for Scientific Research

    Research category:Grant-in-Aid for Scientific Research (B)

    Awarding organization:Japan Society for the Promotion of Science

    Onodera Osamu, SATO Toshiya, TOYOSHIMA Yasuko, KOYAMA Akihide

      More details

    Grant amount:\18720000 ( Direct Cost: \14400000 、 Indirect Cost:\4320000 )

    Cerebral small-vessel disease (CSVD) is a neurological disorder involving white matter lesions. CSVD is frequently observed in an elderly population and causes cognitive impairment and motor dysfunction. However little is known about a molecular pathogenesis for CSVD. Cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an autosomal-recessive inherited cerebral small vessel disease (CSVD), involves severe leukoaraiosis, multiple lacunar infarcts, early-onset alopecia, and spondylosis deformans without hypertension. High-temperature requirement serine peptidase A1 (HTRA1) gene mutations cause CARASIL by decreasing HTRA1 protease activity. We have investigated the HTRA1 deficit mouse. We found that these mice showed mural cell and internal elastic membrane degeneration. We found fibronectin and protein X accumulates at the internal membrane. The pathological findings of the mouse resemble those of CARASIL as well as sporadic CSVD.

    researchmap

▶ display all

 

Teaching Experience

  • 医療と法

    2022
    Institution name:新潟大学

  • 医学論文を読む(ジャーナルクラブ)A

    2022
    -
    2023
    Institution name:新潟大学

  • 特殊講義(法医学I)

    2022
    -
    2023
    Institution name:新潟大学

  • 法医学

    2020
    Institution name:新潟大学

  • 医療と法

    2020
    Institution name:新潟大学