Osaka Hitoshi 小坂仁

… Alternative Names

OSAKA Hitoshi 小坂仁

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Researcher Number	90426320
Other IDs
Affiliation (Current)	2025: 自治医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help	2020 – 2024: 自治医科大学, 医学部, 教授 2013 – 2018: 自治医科大学, 医学部, 教授 2011 – 2012: 地方独立行政法人神奈川県立病院機構神奈川県立がんセンター(臨床研究所), その他部局等, その他 2007: Kanagawa Cancer Center Research Institute, Kanagawa Center Research Institute, 技幹 2006 – 2007: 神奈川県立がんセンター(臨床研究所), 技幹
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Neurology / Pediatrics Except Principal Investigator Pediatrics / Basic Section 49030:Experimental pathology-related / Radiation science
Keywords	Principal Investigator 小胞体ストレス / シャペロン / 神経変性 / 白質形成不全 / 細胞腫 / ベクター / 遺伝子治療 / フェロトーシス / 細胞死 / 酸化ストレス … More / MELAS / Leigh脳症 / ミトコンドリア / 非アルコール性脂肪性肝疾患 / アルツハイマー病 / パーキンソン病 / ミトコンドリア病 / アポモルフィン / 脳神経疾患 / フォールディング / 希少難病 / 遺伝性神経疾患 / 蛋白構造 / 神経変性疾患 / 薬物スクリーニング / 蛋白構造不全 / 遺伝性疾患 / Chaperon / Neurodegeneration / Biological neurochemistry / 神経病態生化学 / PolIII / 白質形成不全症 / HCAHC / POL3B / POL3A … More Except Principal Investigator 血液幹細胞移植 / MirC / Mitochondrial DNA / Single cell ddPCR / mRNA transfection / ミトコンドリアゲノム置換 / 骨髄移植 / ミトコンドリア置換 / ミトコンドリアゲノム異常 / 遺伝子導入 / ミトコンドリア病 / 細胞移植 / 血液幹細胞 / ミトコンドリア / 脳 / 小児 / 発達 / 小児脳 / 乳児 / 新生児 / 低酸素性虚血性脳症 / 神経疾患 / 1H-MRS / 新生児低酸素性虚血性脳症 / infant / newborn / GABA / 神経伝達物質 / 脳内代謝物 / MRS / ペリツェウス・メルツバッハ病 / 小児神経学 / 輸送障害 / 小胞体ストレス / 分泌経路 / 小胞体 / ペリツェウス・メルツバッハー病 / 細胞病態 / 自閉症 / 精神遅滞 / グアニジノ酢酸 / クレアチニン / グアニジノ化合物 / iPS細胞 / 発達障害 / クレアチントランスポーター / 治療薬 / 脳クレアチン欠乏症候群 / 先天性代謝異常 / トランスポーター / クレアチン / 知的障害 Less

AAVウイルス遺伝子治療による中枢神経単一細胞発現マッピングPrincipal Investigator
- Principal Investigator
  
  小坂仁
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Jichi Medical University
Development of Mitochondrial Disease Therapy by Mitochondrial DNA Replacement in Haematopoietic Stem Cells
- Principal Investigator
  
  五條理志
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 49030:Experimental pathology-related
- Research Institution
  Kyoto Prefectural University of Medicine
Elucidation of the mechanism of mitochondrial disease cell death inhibition and drug discoveryPrincipal Investigator
- Principal Investigator
  
  Osaka Hitoshi
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Jichi Medical University
Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher disease
- Principal Investigator
  
  INOUE KEN
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Drug screening for childhood genetic disease by visualizing proteins.Principal Investigator
- Principal Investigator
  
  Osaka Hitoshi
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Jichi Medical University
Study for Pathogenesis of Cerebral Creatine Deficiency Syndromes
- Principal Investigator
  
  WADA Takahito
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyoto University
MRS quantification of brain metabolites and neurotransmitters in the pediatric cerebrum and cerebellum by 3T scanner
- Principal Investigator
  
  Aida Noriko
- Project Period (FY)
  2014 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Radiation science
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Isolation and thepay for congenital hypomyelinating disordersPrincipal Investigator
- Principal Investigator
  
  OSAKA Hitoshi
- Project Period (FY)
  2011 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical University
  Kanagawa Cancer Center Research Institute
Therapy for neurodegeneerative disease using novel screening method for chemical chaperon.Principal Investigator
- Principal Investigator
  
  OSAKA Hitoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kanagawa Cancer Center Research Institute

[Book] アポモルフィンのLeigh脳症に対する治療(柳茂、三牧正和編　　ミトコンドリア疾患治療の新時代)2023
- Author(s)
  小坂仁、宮内彰彦
- Total Pages
  7
- Publisher
  実験医学
- Data Source
  KAKENHI-PROJECT-20H03648
[Book] elizaeus-Merzbacher病; 小児中枢神経疾患の画像診断20082008
- Author(s)
  小坂仁
- Total Pages
  2
- Publisher
  東京医学社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Book] elizaeus-Merzbacher病;小児中枢神経疾患の画像診断20082008
- Author(s)
  小坂仁
- Total Pages
  2
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease2023
- Author(s)
  Watanabe, C., Osaka, H., Watanabe, M., Miyauchi, A., Jimbo, E. F., Tokuyama, T., Uosaki, H., Kishita, Y., Okazaki, Y., Onuki, T., Ebihara, T., Aizawa, K., Murayama, K., Ohtake, A., & Yamagata, T.
- Journal Title
  
  Mol Genet Metab Rep
  
  Volume: 34 Pages: 100951-100951
- DOI
  10.1016/j.ymgmr.2022.100951
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15397, KAKENHI-PROJECT-19KK0219, KAKENHI-PROJECT-20H03648, KAKENHI-PROJECT-23K24334, KAKENHI-PROJECT-19K16527
[Journal Article] A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis2022
- Author(s)
  Shimozawa, H., T. Sato, H. Osaka, A. Takeda, A. Miyauchi, N. Omika, Y. Yada, Y. Kono, K. Murayama, Y. Okazaki, Y. Kishita and T. Yamagata
- Journal Title
  
  Int. Heart J.
  
  Volume: 63 Issue: 5 Pages: 970-977
- DOI
  10.1536/ihj.21-859
- ISSN
  1349-2365, 1349-3299
- Year and Date
  2022-09-30
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03648
[Journal Article] Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings2021
- Author(s)
  Sato-Shirai, I. Ogawa, E. Arisaka, A. Osaka, H. Murayama, K. Kuwajima, M. Watanabe, M. Ichimoto, K. Ohtake, A. Kumada, S.
- Journal Title
  
  Brain Dev
  
  Volume: 43 Issue: 2 Pages: 308-313
- DOI
  10.1016/j.braindev.2020.10.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03648
[Journal Article] Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet2021
- Author(s)
  Numata-Uematsu Yurika、Uematsu Mitsugu、Yamamoto Toshiyuki、Saitsu Hirotomo、Katata Yu、Oikawa Yoshitsugu、Saijyo Naoya、Inui Takehiko、Murayama Kei、Ohtake Akira、Osaka Hitoshi、Takanashi Jun-ichi、Kure Shigeo、Inoue Ken
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 29 Pages: 100800-100800
- DOI
  10.1016/j.ymgmr.2021.100800
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21H02886, KAKENHI-PROJECT-20H03648
[Journal Article] Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene2020
- Author(s)
  Yamada Y, Somiya K, Miyauchi A, Osaka H, Harashima H
- Journal Title
  
  Sci. Rep
  
  Volume: - Issue: 1 Pages: 7511-7511
- DOI
  10.1038/s41598-020-64322-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H02094, KAKENHI-PROJECT-19H01170, KAKENHI-PROJECT-20H03648, KAKENHI-PROJECT-20H04523
[Journal Article] Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP12019
- Author(s)
  Takeshi Kouga, Shiro Koizume, Shiho Aoki, Eriko Jimbo, Takanori Yamagata, Ken Inoue, Hitoshi Osaka
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15H04878
[Journal Article] A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.2016
- Author(s)
  Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.
- Journal Title
  
  Brain & Development
  
  Volume: 38 Issue: 6 Pages: 581-584
- DOI
  10.1016/j.braindev.2015.12.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26430135, KAKENHI-PROJECT-25670485, KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-16H05361
[Journal Article] The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.2016
- Author(s)
  Sumida K, Inoue K, Takanashi JI, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Mastuda H, Sato N
- Journal Title
  
  Brain Dev
  
  Volume: in press Issue: 6 Pages: 571-80
- DOI
  10.1016/j.braindev.2015.12.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485, KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-16H05361
[Journal Article] 尿中クレアチン/クレアチニン比と家族歴により診断に至ったクレチントランスポーター欠損症の1家系：本邦3家系目．2015
- Author(s)
  野崎章仁、熊田友浩、柴田実、藤井達哉、和田敬仁、小坂仁．
- Journal Title
  
  脳と発達
  
  Volume: 47 Pages: 49-52
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461544
[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(2) Issue: 2 Pages: 97-101
- DOI
  10.1038/jhg.2014.103
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case.2015
- Author(s)
  Miyatake, C., S. Koizumi, H. Narazaki, T. Asano, H. Osaka, K. Kurosawa, J. Takanashi and O. Fujino
- Journal Title
  
  Nippon Med Sch
  
  Volume: 82 Pages: 74-75
- NAID
  130005068456
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15H04878
[Journal Article] Pathophysiology and emerging therapeutic strategies in Pelizaeus-Merzbacher Disease.2015
- Author(s)
  Osaka H, Inoue K.
- Journal Title
  
  Expert Opinion on Orphan Drugs.
  
  Volume: 3 Issue: 12 Pages: 1447-1458
- DOI
  10.1517/21678707.2015.1106315
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-25670485
[Journal Article] Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.2014
- Author(s)
  Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T*, Iai M, Yamashita S, Osaka H.
- Journal Title
  
  Brain Dev.
  
  Volume: 36 Issue: 7 Pages: 630-633
- DOI
  10.1016/j.braindev.2013.08.004
- Data Source
  KAKENHI-PROJECT-26461544
[Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2014
- Author(s)
  Takanashi JI, Osaka H, Saitsu H, et al.
- Journal Title
  
  Brain Dev.
  
  Volume: 89 Pages: 59-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] A Japanese adult case of guanidinoacetate methyltransferase deficiency.2014
- Author(s)
  Akiyama T, Osaka H, Shimbo H, Nakajiri T, Kobayashi K, Oka M, Endoh F, Yoshinaga H.
- Journal Title
  
  JIMD Rep
  
  Volume: 12 Pages: 65-69
- DOI
  10.1007/8904_2013_245
- ISBN
  9783319034607, 9783319034614
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461544
[Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated2014
- Author(s)
  Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
- Journal Title
  
  Neurology
  
  Volume: 82(24) Issue: 24 Pages: 2230-7
- DOI
  10.1212/wnl.0000000000000535
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549
[Journal Article] Partial PLP1 Deletion Causing X-Linked Dominant Spastic Paraplegia Type 2.2013
- Author(s)
  Matsufuji M, Osaka H, Gotoh L,et al
- Journal Title
  
  Pediatr Neurol.
  
  Volume: 49 Pages: 477-481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] 先天性大脳白質形成不全症の臨床症状と分子病態：シンポジウム3, 先天性大脳白質形成不全症―疾患概念の確立から、病態解析・治療的展望までー特集・第54回日本小児神経学会総会、2013
- Author(s)
  小坂　仁、井上　健、才津　浩智
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 127-31
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2013
- Author(s)
  98. Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M,
- Journal Title
  
  Brain Dev.
  
  Volume: May 3 Issue: 3 Pages: 259-263
- DOI
  10.1016/j.braindev.2013.03.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485
[Journal Article] A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.2013
- Author(s)
  97. Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T,Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161 Issue: 1 Pages: 203-7
- DOI
  10.1002/ajmg.a.35686
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-23591494, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24659497
[Journal Article] シンポジウム3, 先天性大脳白質形成不全症―疾患概念の確立から、病態解析・治療的展望まで2013；45：121ー特集・第54回日本小児神経学会総会2013
- Author(s)
  小坂　仁、井上　健
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 121-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL52012
- Author(s)
  Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N
- Journal Title
  
  Brain Dev
  
  Volume: 34 Pages: 364-367
- NAID
  10031050724
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia.2012
- Author(s)
  Tsuyusaki Y, Shimbo H, Wada T, Iai M, Tsuji M, Yamashita S, Aida N, Kure S, Osaka H
- Journal Title
  
  Brain Dev.
  
  Volume: 34 Pages: 72-75
- NAID
  10031049636
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.2011
- Author(s)
  Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 606-609
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes2011
- Author(s)
  Wada T, Shimbo H, Osaka H
- Journal Title
  
  Amino Acids
  
  Volume: on line Issue: 2 Pages: 993-997
- DOI
  10.1007/s00726-011-1146-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency2011
- Author(s)
  Arai M, Osaka H
- Journal Title
  
  Epilepsia
  
  Volume: 52 Issue: 7 Pages: 58-61
- DOI
  10.1111/j.1528-1167.2011.03064.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant2011
- Author(s)
  Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H
- Journal Title
  
  Brain Dev
  
  Volume: 33 Pages: 521-524
- NAID
  10029562192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: (in press) Issue: 1 Pages: 2879-84
- DOI
  10.1002/ajmg.a.34363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-24591500
[Journal Article] Acute encephalopathy in two cases with severe congenital hydrocephalus2011
- Author(s)
  Tanoue K, Matsui K, Ohshiro A, Yamamoto A, Hayashi T, Fujimoto J, Osaka
- Journal Title
  
  Brain Dev
  
  Volume: 33 Pages: 616-619
- NAID
  10031121964
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Acute encephalopathy in a patient with Dravet syndrome.2011
- Author(s)
  Tsuji M, Mazaki E, Ogiwara I, Wada T, Iai M, Okumura A, Yamashita S, Yamakawa K, Osaka H
- Journal Title
  
  Neuropediatrics
  
  Volume: 42 Issue: 02 Pages: 78-81
- DOI
  10.1055/s-0031-1279725
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-23591518, KAKENHI-PROJECT-23791202
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Pages: 644-651
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264
[Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter2008
- Author(s)
  Tohyama, J., Akasaka, N., Osaka, H.Maegaki, Y., Kato, M., Saito, N.Yamashita, S., Ohno, K.
- Journal Title
  
  Brain Development 30
- NAID
  10025576951
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] De novo mutations in the gene encoding STXBP1(MUNC18-1)cause early infantile epileptic encephalopathy2008
- Author(s)
  Saitsu, H., Kato, M., Mizuguchi, T., Hamada, K., Osaka, H., Tohyama, J., Uruno, K., Kumada, S., Nishiyama, K., Nishimura, A., Okada, I., Yoshimura, Y., Hirai, S., Kumada, T., Hayasaka, K., Fukuda, A., Ogata, K., Matsumoto, N
- Journal Title
  
  Nature Genetics
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter2008
- Author(s)
  Tohyama, J., Akasaka, N., Osaka, H., Maegaki, Y., Kato, M., Saito, N., Yamashita, S., Ohno, K.
- Journal Title
  
  Brain Development 30
  
  Pages: 349-355
- NAID
  10025576951
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Distinct clinical course of SMEI with SCN 2A mutation-Comparison with SCN 1A mutations.2008
- Author(s)
  Osaka H, Mazaki E Ohamura N, Mizue I, Yamada M, Yamakawa K Yamashita S.
- Journal Title
  
  Biology of Seizure Susceptibility in Developing Brain. Editions John Libbey Eurotext
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] DISTINCT CLINICAL COURSE OF EPILEPSY WITH AN SCN2A MUTATION-COMPARISON WITH SCN1A MUTATIONS2008
- Author(s)
  Osaka, H., Mazaki, E., Okamura, N., Iai, M., Yamada, M., Yamakawa, K., Yamashita, S.
- Journal Title
  
  Progress in Epileptic Disorders (in print)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Pelizaeus-Merzbacher Disease2008
- Author(s)
  Osaka H.
- Journal Title
  
  Diagnostic pediatric neuroradiology, (Tokyo igaku-sha)
  
  Pages: 484-485
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] De novo mutations in the gene encoding STXBP1(MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  Saitsu, H., Kato, M., Mizuguchi, T., Hamada, K., Osaka, H., Tohyama, J., Uruno, K., Kumada, S., Nishiyama, K., Nishimura, A., Okada, I., Yoshimura, Y., Hirai, S., Kumada, T., Hayasaka, K., Fukuda, A., Ogata, K., Matsumoto, N
- Journal Title
  
  Nature Genetics (in print)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] De novo mutations in the gene encoding STXBP1(MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K & Matsumoto N
- Journal Title
  
  Nature Genetics 40
  
  Pages: 782-788
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] DISTINCT CLINICAL COURSE OF EPILEPSY WITH AN SCN2A MUTATION-COMPARISON WITH SCN1A MUTATIONS2008
- Author(s)
  Osaka, H., Mazaki, E., Okamura, N., Iai, M., Yamada, M., Yamakawa, K., Yamashita, S.
- Journal Title
  
  Progress in Epileptic Disorders
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation2007
- Author(s)
  Osaka, H., Ogiwara, I., Mazaki, E., Okamura, N., Yamashita, S., Imai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui-Furukori, N., Kaneko, S., Fujiwara, T., Inoue, Y., Yamakawa, K
- Journal Title
  
  Epilepsy Research 75
  
  Pages: 46-51
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.2007
- Author(s)
  Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, et. al.
- Journal Title
  
  Brain Dev. Dec 5(Epub ahead of print)
- NAID
  10025576951
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutant.2007
- Author(s)
  Setsuie R, Wang YL, Mochizuki H, Osaka H, Hayakawa H, Ichihara N, et. al.
- Journal Title
  
  Neurochem Int 50
  
  Pages: 119-2
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Patients with sodium channel alpha 1 gene mutation show wide phenotypic variation2007
- Author(s)
  Osaka, H., Ogiwara, I., Mazaki, E., Okamura, N., Yamashita, S., Iai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui-Furukori, N., Kanneko, S., Fujiwara, T., Inoue, Y., Yamakawa, K
- Journal Title
  
  Epilepsy Research 75
  
  Pages: 46-51
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Dopaminergic neurona1 loss in transgenic mice expressing the Parkinson' s disease-associated UCH-LI I93M mutant.2006
- Author(s)
  Setsuie, R., Wang, Y.L., Mochizuki, H., Osaka, H., Hayakawa, H., Ichihara, N., Li, H., Furuta, A., Sano, Y., Sun, Y.J., et al.
- Journal Title
  
  Neurochem Int. 50
  
  Pages: 119-129
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome : Molecular mimicry and HLA class I2006
- Author(s)
  Takahashi, Y, Matsuda, K, Kubota Y, Shimomura J, Yamasaki, E, Kudo, T, Fukushima K, Osaka H, Akasaka N, Imamaura, A, Yamada, S, Rondo, N, Fujiwara, T
- Journal Title
  
  Clinical ＆ Developmental Irnmunology 13
  
  Pages: 381-387
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.2006
- Author(s)
  Koizume, S., Takizawa, S., Fujita, K., Aida, N., Yamashita, S., Miyagi, Y., Osaka, H.
- Journal Title
  
  Neuroscience 141
  
  Pages: 1861-1869
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Parkin potentiates ATP-indused currents due to activation of P2X receptors in PC12 cells.2006
- Author(s)
  Sato, A., Arimura, Y., Manago, Y., Nishikawa, K., Aoki, K., Wada, E., Suzuki, Y., Osaka, H., Setsuie, R., et. al.
- Journal Title
  
  J Cell Physiol. 209
  
  Pages: 172-82
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Solo/Trio8, a membrane-associated short isoform of Trio, modulates endosome dynamics and neurite elongation.2006
- Author(s)
  Sun, Y.J., Nishikawa, K., Yuda, H., Wang, Y.L., Osaka, H., Fukazawa, N., Naito, A., Kudo, Y., Wada, K., Aoki, S.
- Journal Title
  
  Mol Cell Biol 26
  
  Pages: 6923-6935
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.2006
- Author(s)
  Koizume, S., Takizawa, S., Fujita, K., Aida, N., Yamashita, S., Miyagi, Y., and Osaka, H.
- Journal Title
  
  Neuroscience 141
  
  Pages: 1861-1869
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Overexpression of ubiqitin carboxyl-terminal hydrolase L1 arrests spermatogenesis in transgenic mice.2006
- Author(s)
  Wang, Y. L., Liu, W., Sun, Y J., Kwon, J., Setsuie, R., Osaka, H., Noda, M., Aoki, S., Yoshikawa, Y., and Wada, K.
- Journal Title
  
  Mol Reprod Dev 73
  
  Pages: 40-49
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Parkin potentiates ATP-induced currents due to activation of P2X receptors in PC12 cells.2006
- Author(s)
  Sato, A., Arimura, Y., Manago, Y., Nishikawa, K., Aoki, K., Wada, E., Suzuki, Y., Osaka, H., Setsuie, R., Sakurai, M.
- Journal Title
  
  J Cell Physiol.
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Overexpression of ubiquitin carboxy1-terminal hydrolase L1 arrests spermatogenesis in transgenic mice.2006
- Author(s)
  Wang, Y.L., Liu, W., Sun, Y.J., Kwon, J., Setsuie, R., Osaka, H., Noda, M., Aoki, S., Yoshikawa, Y., Wada, K.
- Journal Title
  
  Mol Reprod Dev 73
  
  Pages: 40-49
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Taccination and infection as causative factors in Japanese patients with Rasmussen syndrome : Molecular mimicry and HLA class I2006
- Author(s)
  Takahashi, Y, Matsuda, K, Kubota Y, Shimomura J, Yamasaki, E, Kudo, T, Fukushima K, Osaka H, Akasaka N, Imamaura A, Yamada S, Kondo, N, Fujiwara
- Journal Title
  
  Clinical & Developmental Immunology 13
  
  Pages: 381-38
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Patent] プロテオリピドタンパク質1の構造不全の改善剤2018
- Inventor(s)
  小坂仁、山形崇倫、神保恵理子、甲賀健史
- Industrial Property Rights Holder
  小坂仁、山形崇倫、神保恵理子、甲賀健史
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2018-094878
- Filing Date
  2018
- Data Source
  KAKENHI-PROJECT-15H04878
[Presentation] ミトコンドリア病に対するアポモルフィン誘導体の有効性の検討2023
- Author(s)
  小林瑞、宮内彰彦、神保恵理子、山形崇倫、小坂仁
- Organizer
  第21回ミトコンドリア病学会年会
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] ミトコンドリア病診療マニュアル 2023 のアウトライン2023
- Author(s)
  小坂仁
- Organizer
  第21回ミトコンドリア病学会年会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] The Redox State of Coenzyme Q10　in Mitochondrial Disease Patients2022
- Author(s)
  Chika Watanabe, Hitoshi Osaka, Miyuki Watanabe, Akihiko Miyauchi, Eriko F. Jimbo Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Akira Ohtake, Takanori Yamagata
- Organizer
  The 63rd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] Update on clinical trials in Leigh syndrome2021
- Author(s)
  Osaka H.
- Organizer
  258th ENMC International Workshop on Leigh syndrome spectrum
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] Pre-clinical trials of Apomorphine for Leigh syndrome2021
- Author(s)
  Osaka H
- Organizer
  258th ENMC International Workshop on Leigh syndrome spectrum
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] 原発性 CoenzymeQ10 欠乏症の早期診断系確立と病態解析2021
- Author(s)
  渡邉知佳，宮内彰彦，渡邊美有紀，神保恵理子，今澤俊，村山圭，大竹明，山形崇倫，小坂仁
- Organizer
  J-mit 特別オンラインシンポジウム
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] アポモルフィンのフェロトーシス制御によるミトコンドリア病治療2021
- Author(s)
  宮内彰彦、渡邊知佳、小林瑞、山田直也、神保恵理子、高橋将文、山形崇倫、小坂仁
- Organizer
  第20回ミトコンドリア病学会年会
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] ミトコンドリア創薬2021
- Author(s)
  小坂　仁、宮内彰彦、
- Organizer
  第20回ミトコンドリア病学会年会
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] ECHS1欠損症患者における尿中代謝物の解析2020
- Author(s)
  桑島真理、小坂仁、白井育子、濱田悠介、市本景子、村山圭、山形崇倫
- Organizer
  第123回　日本小児科学会
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] 皮膚線維芽細胞を用いた原発性コエンザイムQ10欠乏症の診断方法確立2020
- Author(s)
  渡邉知佳，小坂仁，村山圭，大竹明，山形崇倫
- Organizer
  第123回　日本小児科学会
- Data Source
  KAKENHI-PROJECT-20H03648
[Presentation] Drug screening for mitochondrial disease using fibroblasts from patients with mitochondrial disease.2018
- Author(s)
  Akihiko Miyauchi, Takeshi Kouga, Eriko Jimbo, Tetsuro Matsuhashi, Takaaki Abe, Takanori Yamagata, Hitoshi Osaka
- Organizer
  UMDF Mitochondrial Medicine 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04878
[Presentation] Establishment of cell lines for drug screening for Alexander disease using glial fibrillary acidic protein cellular localization2018
- Author(s)
  Janyerkye Tulyeu, Eriko F. Jimbo, Shiho Aoki, Takanori Yamagata, Hitoshi Osaka
- Organizer
  ASHG (The American Society of Human　Genetics) 2018 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04878
[Presentation] TUBB4A関連白質変性症7例のMR spectroscopyによる検討2018
- Author(s)
  佐野賢太郎、室伏佑香、森山陽子、安藤直樹、池野充、井上　健、小坂仁、後藤知英、佐々木征行、萩野谷和裕、森本昌史、和田敬仁、髙梨潤一
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 先天性大脳白質形成不全症の診断サポートのためのコンサルテーションボード2018
- Author(s)
  井上　健、黒澤健司、才津浩智、山本俊至、小坂　仁、高梨潤一
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Chemical chaperone screening for Pelizaeus-Merzbacher disease.2018
- Author(s)
  T. Kouga, S. Koizume, E. Jimbo, T. Yamagata, K. Inoue, H. Osaka.
- Organizer
  The American Society of Human Genetics Annual Meeting 2018.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 大脳白質形成不全を呈する疾患原因の解明Congenital cerebral hypomyelination．2017
- Author(s)
  小坂　仁，井上　健
- Organizer
  第59回日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 急性散在性脳脊髄炎(ADEM)を発症したPolIII関連白質ジストロフィーの一例2017
- Author(s)
  松岡剛司, 比屋根真彦, 大府正治, 山本俊至, 小坂仁, 高梨潤一, 才津浩智, 井上健.
- Organizer
  第59回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 遺伝性白質疾患の診断・治療・研究システムの構築2017
- Author(s)
  小坂　仁，井上　健，三重野　牧子，吉田　誠克，久保田　雅也，佐々木　征行、松井　大，才津　浩智，髙梨　潤一，黒澤　健司，山本　俊至
- Organizer
  第59回日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Intracellular mislocalization of mutant proteins as a screen for therapeutic chaperones to treat genetic diseases.2017
- Author(s)
  Takeshi Kouga, Hitoshi Osaka, Chihiro Ohba, et al.
- Organizer
  米国人類遺伝学会(ASHG)2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04878
[Presentation] 生直後より呼吸障害を認め，気管切開術を要したPelizaeus-Merzbacher病（PMD）の1 例2015
- Author(s)
  植田綾子1，小池泰敬1，矢田ゆかり1，河野由美1，新保裕子2，小坂仁1，山形崇倫1
- Organizer
  第57回日本小児神経学会
- Place of Presentation
  大阪
- Year and Date
  2015-05-27
- Data Source
  KAKENHI-PROJECT-15H04878
[Presentation] Molecular genetic study and urine analysis of Japanese patients with cerebral creatine deficiency syndromes.2015
- Author(s)
  H. Shimbo, H. Osaka, M. Tachikawa, S. Ohtsuki, S. Ito, T. Goto, Y. Tsuyusaki, N. Aida, K. Kurosawa, Y. Kurosawa, H. Kato, K. Takano, T. Wada.
- Organizer
  65th American Society of Human Genetics
- Place of Presentation
  Baltimore
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461544
[Presentation] 「脳クレアチン欠乏症候群の臨床研究班」の取り組み2015
- Author(s)
  和田敬仁，小坂仁，相田典子，後藤知英，露崎悠，新保裕子，加藤秀一，高野亨子，大槻純男，伊藤慎悟，立川正憲，黒澤裕子
- Organizer
  第57回日本小児神経学会
- Place of Presentation
  大阪
- Year and Date
  2015-05-27
- Data Source
  KAKENHI-PROJECT-26461544
[Presentation] ATG＞AGG (開始コドン)の変異で軽症の表現型を示したPelizaeus-Merzbacher病の一男児例2013
- Author(s)
  山本亜矢子、大城亜希子、安西里恵、高木真理子、奥田美津子、新保裕子、高野亨子、和田敬仁、井合瑞江、山下純正、小坂　仁
- Organizer
  第55回日本小児神経学会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591264
[Presentation] 先天性大脳白質形成不全症：ゲノム解析から診断, 治療への取り組み；シンポジウム2012
- Author(s)
  井上健1), 岩城明子2), 黒澤健司3), 高梨潤一4), 出口貴美子1), 山本俊至5), 小坂仁6)
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-23591264
[Presentation] 先天性大脳白質形成不全症の臨床症状と分子病態；シンポジウム2012
- Author(s)
  小坂仁1), 井上健2), 才津浩智3) 1)神奈川県立こども医療センター神経内科, 2)国立精神・神経医療研究センター神経研究所疾病研究第2部, 3)横浜市立大学医学部遺伝学教室
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-23591264
[Presentation] A SOX10 binding site mutation in GJC2 promoter causes Pelizaeus-Merzbacher-like disease2011
- Author(s)
  Hitoshi Osaka, Atsuo Nezu, Hirotomo Saitsu,Kenji Kurosawa,Hiroko Shimbo, Naomichi Matsumoto,Ken Inoue,A
- Organizer
  第53回日本小児神経学会総会 English session
- Place of Presentation
  yokohama
- Data Source
  KAKENHI-PROJECT-23591264
[Presentation] Establishment of screening system for Pelizaeus-Merzbacher disease2008
- Author(s)
  Osaka H, Kenji K, Mizue I, Michiko Y, Yamashita J.
- Organizer
  50th Annual Meeting of Japanese pediatric neurology
- Place of Presentation
  Tokyo
- Year and Date
  2008-05-28
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Pelizaeus-Merzbacher病の病態解析2007
- Author(s)
  小坂仁, 他
- Organizer
  49回日本小児神経学会総会
- Place of Presentation
  大阪
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Distinct clinical course of SMEI with SCN 2A mutation-Comparison with SCN 1A mutations.2007
- Author(s)
  Osaka H, Mazaki E, Okamura N, Yamashita S, Mizue I, Yamada M and Yamakawa K
- Organizer
  10th Annual Meeting of the Infantile Seizure Society ; INTERNATIONAL SYMPOSIUM ON BIOLOGY OF SEIZURE SUSCEPTIBILITY
- Place of Presentation
  Tokyo
- Year and Date
  2007-04-07
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Pathophysiology for Pelizaeus-Merzbacher disease2007
- Author(s)
  Osaka H, Kenji K, Mizue I, Michiko Y, Yamashita J.
- Organizer
  49th Annual Meeting of Japanese pediatric neurology
- Place of Presentation
  Osaka
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Special Lecture ; Clinical, pathophysiology and the therapy for dysmyelinating disease2006
- Author(s)
  Osaka H.
- Organizer
  14th Shinshu neuro-pediatric conference
- Place of Presentation
  Matsumoto
- Year and Date
  2006-05-13
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Aberrant trafficking of a mutated proteolipid protein in a mild Pelizaeus-Merzbacher disease.2006
- Author(s)
  Koizume S, Takizawa S, Yamashita S, Miyagi Y, OsakaH
- Organizer
  29th Annual Meeting of Japanese molecular biology
- Place of Presentation
  Kyoto
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[]

1. INOUE Ken (30392418)

# of Collaborated Projects: 3 results

# of Collaborated Products: 10 results
2. WADA Takahito (70359727)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
3. OHTSUKI Sumio (60323036)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
4. Aida Noriko (20586292)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. OBATA Takayuki (00285107)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 立川正憲 (00401810)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
7. 伊藤慎悟 (20466535)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
8. 新保裕子 (50724663)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
9. 富安もよこ (10443079)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 柴崎淳 (30540471)

# of Collaborated Projects: 1 results

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11. 露崎悠 (70725449)

# of Collaborated Projects: 1 results

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12. 後藤知英 (50317179)

# of Collaborated Projects: 1 results

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13. 秋山泰 (30243091)

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14. 山口雄輝 (50345360)

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15. 五條理志 (90316745)

# of Collaborated Projects: 1 results

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16. 横田貴史 (60403200)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 上大介 (80415588)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. KOUGA takeshi

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
19. LI Heng

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. KOIZUME Shiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 宮城洋平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 高梨潤一

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
23. 山下暁朗

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# of Collaborated Products: 1 results
24. 徳山剛士

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# of Collaborated Products: 1 results
25. 加藤光広

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# of Collaborated Products: 1 results
26. 松本直通

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# of Collaborated Products: 1 results
27. 山田勇磨

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Osaka Hitoshi 小坂 仁

OSAKA Hitoshi 小坂 仁

Research Projects

Research Products

Co-Researchers

AAVウイルス遺伝子治療による中枢神経単一細胞発現マッピングPrincipal Investigator

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Development of Mitochondrial Disease Therapy by Mitochondrial DNA Replacement in Haematopoietic Stem Cells

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Elucidation of the mechanism of mitochondrial disease cell death inhibition and drug discoveryPrincipal Investigator

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Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher disease

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Drug screening for childhood genetic disease by visualizing proteins.Principal Investigator

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Study for Pathogenesis of Cerebral Creatine Deficiency Syndromes

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MRS quantification of brain metabolites and neurotransmitters in the pediatric cerebrum and cerebellum by 3T scanner

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Isolation and thepay for congenital hypomyelinating disordersPrincipal Investigator

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Therapy for neurodegeneerative disease using novel screening method for chemical chaperon.Principal Investigator

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[Book] アポモルフィンのLeigh脳症に対する治療(柳茂、三牧正和編 ミトコンドリア疾患治療の新時代)2023

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[Book] elizaeus-Merzbacher病; 小児中枢神経疾患の画像診断20082008

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[Book] elizaeus-Merzbacher病;小児中枢神経疾患の画像診断20082008

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[Journal Article] Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease2023

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Osaka Hitoshi 小坂仁

OSAKA Hitoshi 小坂仁

[Book] アポモルフィンのLeigh脳症に対する治療(柳茂、三牧正和編　　ミトコンドリア疾患治療の新時代)2023