川上 秀史Hideshi Kawakami

Last Updated :2024/12/10

所属・職名
原爆放射線医科学研究所 教授
メールアドレス
hkawakamhiroshima-u.ac.jp

基本情報

学位

  • 博士(医学) (京都大学)

研究分野

  • 医歯薬学 / 内科系臨床医学 / 神経内科学

研究キーワード

  • 原爆被爆者
  • 遺伝要因
  • 脊髄小脳失調症
  • 広島
  • 神経
  • トリプットリピート
  • オプチニューリン

教育活動

授業担当

  1. 2024年, 学部専門, 集中, 医学研究実習
  2. 2024年, 修士課程・博士課程前期, セメスター(前期), 特別演習
  3. 2024年, 修士課程・博士課程前期, セメスター(後期), 特別演習
  4. 2024年, 修士課程・博士課程前期, セメスター(前期), 特別研究
  5. 2024年, 修士課程・博士課程前期, セメスター(後期), 特別研究
  6. 2024年, 博士課程・博士課程後期, セメスター(前期), 特別演習
  7. 2024年, 博士課程・博士課程後期, セメスター(後期), 特別演習
  8. 2024年, 博士課程・博士課程後期, セメスター(前期), 特別研究
  9. 2024年, 博士課程・博士課程後期, セメスター(後期), 特別研究
  10. 2024年, 博士課程・博士課程後期, セメスター(前期), 分子疫学特別演習
  11. 2024年, 博士課程・博士課程後期, セメスター(後期), 分子疫学特別演習
  12. 2024年, 博士課程・博士課程後期, セメスター(前期), 分子疫学特別研究
  13. 2024年, 博士課程・博士課程後期, セメスター(後期), 分子疫学特別研究
  14. 2024年, 博士課程・博士課程後期, 2ターム, ゲノム編集先端研究特論B

研究活動

学術論文(★は代表的な論文)

  1. C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466巻, 20241115
  2. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation, MOVEMENT DISORDERS CLINICAL PRACTICE, 11巻, 6号, pp. 720-727, 202406
  3. Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families, JBMR PLUS, 8巻, 6号, 20240430
  4. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 82巻, 8号, pp. 734-738, 20230720
  5. 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5巻, 6号, 20231101
  6. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110巻, 7号, pp. 1086-1097, 20230706
  7. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18巻, 6号, 20230623
  8. Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates, TURK PSIKIYATRI DERGISI, 23巻, 3号, pp. 161-170, 2012
  9. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10巻, 1号, 20221207
  10. Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67巻, 10号, pp. 595-599, 202210
  11. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79巻, 7号, pp. 693-701, 202207
  12. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24巻, 7号, pp. 1034-1041, 20090515
  13. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122巻, 2号, pp. 223-229, 201108
  14. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32巻, 10号, 201110
  15. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505巻, 3号, pp. 279-281, 20111121
  16. Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51巻, 2号, pp. 133-141, 201205
  17. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27巻, 9号, pp. 1158-1163, 201208
  18. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14巻, 20140107
  19. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13巻, 3号, pp. 528-532, 201307
  20. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126巻, 6号, pp. 699-704, 201309
  21. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 58-63, 201402
  22. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 64-70, 201402
  23. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337巻, 1-2号, pp. 219-223, 20140215
  24. Effect of carba mylcholine, thrombin on amyloid precursor protein mRNA expression(共著), Canadian Journal of Neurological Science, 20巻, S4号, pp. S203, 19930401
  25. Cloning and expression of a human glutamate transporter(共著), 生化的生物物理学的研究報告集, 199巻, 1号, pp. 171-176, 19940401
  26. CILIARY NEUROTROPHIC FACTOR INDUCED-INCREASE IN β-AMYLOID PRECUSUR PROTEIN mRNA IN RAT C6 GLIOMA CELLS(共著), 生化的生物物理学的研究報告集, 204巻, 1号, pp. 391-398, 19940401
  27. Inhibition by folded isomers of L-2-(carboxycyclopropyl)glycine of gtutamate uptake via human glutamate transporter hGluT-1. (共著), Eur. J. Pharm, 289巻, 2号, pp. 387-390, 19950401
  28. Localization of the gene (SLC1A3) for the human glutanate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization. (共著), Cytogenetics and Cell Genetics, 69巻, 3-4号, pp. 209-210, 19950401
  29. Localization of the gene encoding human glutamate transporter (GLT-1) to11P11. 2-p13 by fluorescence in situ hybridization. (共著), Human Genetics, 97巻, 3号, pp. 387-389, 19960401
  30. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues. (共著), Molecular Brain Research, 36巻, pp. 189-192, 19960401
  31. Machado-Joseph Disease : A proposal of spastic paraplagic subtype. (共著), Neurology, 46巻, pp. 846-847, 19960401
  32. Reevaluation of exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing condations and long PCR. (共著), Human Genetics, 97巻, pp. 91-595, 19960401
  33. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221巻, pp. 199-204, 19960401
  34. Serum deprivation alters the expression and the splicing of at exon 7,8, and 15 of the β-amyloid precoursor protein in the C6 glioma cell line.(共著), Molecular Brain Research, 39巻, 1号, pp. 12-22, 19960401
  35. 日内変動を呈する常染色体劣性若年発症パーキンソニズム-臨床像の検討-。(共著), 臨床神経学, 36巻, 8号, pp. 944-950, 19960401
  36. Coagulation and vascular abnormalities in Crow-Fukase syndrome.(共著), Muscle & Nerve, 20巻, 4号, pp. 486-492, 19970401
  37. 著明な末梢神経障害を呈したミトコンドリアサイトパチーの3例.(共著), 臨床脳波, 39巻, 3号, pp. 193-196, 19970401
  38. A new mitochondrial DNA mutation associated with mitochondrial myopathy : tRNA Leu(UUR)3254C-to-G(共著), Neurology, 49巻, 2号, pp. 598-600, 19970401
  39. Structure and organization of the gene encoding human dopamine transporter. (共著), Gene, 195巻, 1号, pp. 11-18, 19970401
  40. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55巻, 1号, pp. 33-37, 19980401
  41. A necropsied case of Machado-Joseph disease with a hyperintence signal of transverse pontine fibers on long TR sequences of magnetic resonance images. (共著), J Neurol Neurosurg Psychiatry, 64巻, 1号, pp. 140-141, 19980401
  42. Effect of amino acid ergot alkaloids on glutamate transporter HGluT-1. (共著), J Neurological Science, 155巻, 1号, pp. 31-36, 19980401
  43. Spinocerebellar ataxia type6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
  44. 脊髄小脳変性症、ことにMachado-Joseph病と痴呆, Dementia Japan, 11巻, 3号, pp. 242-2447, 19970401
  45. グルタミン酸トランスポーターと神経細胞死(共著), 化学と生物, 35巻, 10号, pp. 722-723, 19970401
  46. 広島県における筋萎縮性側索硬化症の地域診療ネットワークの構築。(共著), 広島医学, 50巻, 12号, pp. 1087-1091, 19970401
  47. Spinocerebellar ataxia type 6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
  48. No association between apolipoprotein E alleles and olivopontocerebellar atrophy. (共著), J Neurological Science, 158巻, 1号, pp. 110-112, 19980401
  49. HLA and T-cell receptor gene polymorphisms in Guillain-Barr(]E85EE[) syndrome. (共著), Neurology, 51巻, 2号, pp. 379-384, 19980401
  50. 喫煙効果のみられた若年発症parkinsonismで悪性症候群を呈した1例.(共著), 神経内科, 49巻, pp. 43-47, 19980401
  51. 若年発症パーキンソニズムにおけるニコチンガムの効果.(共著), 神経治療学, 15巻, pp. 395-399, 19980401
  52. Characteristic magnetic resonance findings in Spinocerebellar ataxia type 6(SCA6). (共著), Archives of Neurology., 55巻, 10号, pp. 1348-1352, 19980401
  53. Genetic contribution of Tumor Necrotic Factoer(TNF)region in Guillain-Barr(]E85EE[) Syndrome. (共著), Annals of Neurology, 44巻, 5号, pp. 815-818, 19980401
  54. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy. (共著), Am J Neuroradiol Nov-Dec, 19巻, 10号, pp. 1904, 19980401
  55. 広島県における遺伝性脊髄小脳変性症の他府県との比較-とくにSCA6について-.(共著), 広島医学, 51巻, pp. 1454-1459, 19980401
  56. Spinocerebellar type 6(SCA6)(共著), 神経内科, 49巻, 9号, pp. 238-242, 19980401
  57. -神経-トピックス;パーキンソン症候群(共著), 最新医学, 53巻, 10号, pp. 228-233, 19980401
  58. グルタミン酸トランスポーターと神経疾患, 神経研究の進歩, 42巻, 6号, pp. 903-909, 19980401
  59. Organization of the human orphan nuclear receptor Nurrl gene. (共著), Gene, 230巻, 2号, pp. 225-232, 19990401
  60. Spinocerebellar ataxia type 6 in relation to CAG repeat length. (共著), Acta Neurol Scand, 99巻, 4号, pp. 209-212, 19990401
  61. Identification and analyis of the promoter region of the human neuroD-related factor(NDRF). (共著), Biochim= Biophys. Acta, 1445巻, 1号, pp. 142-147, 19990401
  62. CACNL 1A4のCAGリピートの著明な伸張を認めたにもかかわらず、家族歴を明らかにし得なったspinpcerebellar ataxia 6(SCA6)の1例.(共著), 脳と神経, 51巻, 2号, pp. 167-170, 19990401
  63. Direct Alteration of the P/Q-Type Ca2+Channel Property by Polyglutamine Expansion in Spinocerebellar Ataxia 6(共著), J. Neurosci., 19巻, pp. RC14, 19990401
  64. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1. (共著), J Med Genet, 36巻, 7号, pp. 546-548, 19990401
  65. Variation in the number of CAG repeats in the Machado-Joseph disease gene(MJD1)in the Japanese population. (共著), J Neurol Sci Jun 15, 166巻, 1号, pp. 71-73, 19990401
  66. SCA6の電気生理学的検討(共著), 日本臨床, 57巻, 4号, pp. 120-124, 19990401
  67. Assignment of Neurod1 to rat chromosome 3 band 3q24-q32 and mouse chromosome 2 band 2E2-E3 by in situ hybridization. (共著), Cytogenetics and Cell Genetics, 86巻, 3-4号, pp. 325-325, 19990401
  68. Effects of nerve growth factor and nicotine on the expression of nicotinic acethlcholine receptor subunits in PC12 cells. (共著), Neuroscience Research, 35巻, 3号, pp. 175-181, 19990401
  69. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease. (共著), J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-656, 20000401
  70. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-531, 20000401
  71. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approch. (共著), NeuroReport, 11巻, pp. 969-972, 20000401
  72. ドーパミントランスポーター遺伝子とParkinson病, ドーパミン 最新の話題, pp. 47-57, 20000401
  73. エストロゲン受容体α遺伝子多型の転写活性およびアルツハイマー病への関与の検討, 自律神経, 37巻, 2号, pp. 251-255, 20000401
  74. 中国・四国地方における遺伝性脊髄小脳変性症の特異性, 神経内科, 53巻, pp. 127-129, 20000401
  75. 神経系疾患の遺伝子学 臨床遺伝子学, 最新医学 9月増刊号, 55巻, pp. 2142-2154, 20000901
  76. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease.(共著), J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-656, 20000401
  77. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease.(共著), Ann Neurol., 47巻, 4号, pp. 528-31, 20000401
  78. Tumor necrotic factor(TNF), TNF receptors type 1 and 2, lymphotoxin-a, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I(HTLV-I)-associated myelopathy(HAM).(共著), Human Immunology, 61巻, 12号, pp. 1262-1269, 20000401
  79. Genetic studies in Parkinson’s disease with an alpha-synuclein/NACP gene polymorphism in Japan.(共著), Neurosci. Lett., 300巻, 2号, pp. 125-127, 20010401
  80. Lack of an association between cystatin C gene polymorphism in Japanese patients with Alzheimer’s disease(共著), Neurology, 57巻, 2号, pp. 337-9, 20010401
  81. Spinocerebellar ataxia type 8(SCA8)(共著), 脳と神経, 53巻, 1号, pp. 34-40, 20010401
  82. 多発性硬化症急性増悪期における自律神経機能の検討(共著), 自律神経, 38巻, pp. 32-37, 20010401
  83. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11巻, 5号, pp. 969-972, 20000401
  84. Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110巻, Supple 1号, pp. S233, 19990401
  85. Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11巻, pp. 191, 19960401
  86. グルタミン酸輸送蛋白を介する細胞死の防御, 62巻, pp. 1281-1283, 19970401
  87. グルタミン酸輸送蛋白と神経細胞死, 36巻, 12号, pp. 1316-1317, 19961201
  88. グルタミン酸輸送蛋白を介する細胞死の防御, 61巻, pp. 1252-1255, 19960401
  89. L-2-(carboxycyclopropyl)glycineによるグルタミン酸トランスポーターを介したグルタミン酸逆行性輸送の抑制作用, 18巻, pp. 382-387, 19960401
  90. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24巻, 2号, pp. 79-81, 20010601
  91. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35巻, 3号, pp. 175-181, 19991201
  92. Lack of an association between cystatin C gene polymorphism in Japanese patients with Alzheimer’s disease, Neurology, 57巻, 2号, pp. 337-339, 20010701
  93. Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307巻, 2号, pp. 128-130, 20010701
  94. Genetic studies in Parkinson’s disease with an alpha-synuclein/NACP gene polymorphism in Japan, Neurosci. Lett., 300巻, 2号, pp. 125-127, 20010301
  95. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11巻, 5号, pp. 969-72, 20000401
  96. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease., J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-6, 20000601
  97. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-31, 20000401
  98. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy., Hum Immunol., 61巻, 12号, pp. 1262-9, 20001201
  99. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57巻, 2号, pp. 236-240, 20000201
  100. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35巻, 3号, pp. 175-81, 19991201
  101. Assignment of Neurod1 to rat chromosome 3 band 3q24-->q32 and mouse chromosome 2 band 2E2-E3 by in situ hybridization., Cytogenet Cell Genet, 86巻, 3-4号, pp. 325-326, 19991101
  102. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)., J Med Genet, 36巻, 7号, pp. 546-8., 19990701
  103. Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population, J. Neurol. Sci., 166巻, 1号, pp. 71-3, 19990601
  104. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69巻, 2号, pp. 223-231, 19990601
  105. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19巻, 12号, pp. RC14, 19990701
  106. Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99巻, 4号, pp. 209-12, 19990401
  107. Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230巻, 2号, pp. 225-32., 19990401
  108. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445巻, 1号, pp. 142-7, 19990401
  109. Apolipoprotein E promoter polymorphism and sporadic Alzheimer’s disease in a Japanese population., Neurosci. Lett., 259巻, 1号, pp. 56-58, 19990401
  110. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92巻, 1-2号, pp. 109-12., 19980401
  111. Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44巻, 5号, pp. 815-8, 19980401
  112. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55巻, 10号, pp. 1348-52, 19980401
  113. HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51巻, 2号, pp. 379-84, 19980401
  114. No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158巻, 1号, pp. 110-2, 19980401
  115. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19巻, 10号, pp. 1904, 19980401
  116. Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40巻, 4号, pp. 222-7, 19980401
  117. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155巻, 6号, pp. 31-6, 19980401
  118. A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images., J Neurol Neurosurg Psychiatry, 64巻, 1号, pp. 140-1, 19980401
  119. Structure and organization of the gene encoding human dopamine transporter., Gene, 195巻, 1号, pp. 11-8, 19970401
  120. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49巻, 2号, pp. 598-600, 19970401
  121. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152巻, 2号, pp. 166-171, 19970201
  122. ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6巻, 8号, pp. 1283-1287, 19970401
  123. Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20巻, 4号, pp. 486-92, 19970401
  124. Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia., Neurology, 48巻, 4号, pp. 1087-1090, 19970401
  125. Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19巻, 12号, pp. 1620-2, 19960401
  126. Serum deprivation alters the expression and the splicing at exons 7, 8 and 15 of the beta-amyloid precursor protein in the C6 glioma cell line., Brain Res Mol Brain Res, 39巻, 1-2号, pp. 12-22, 19960401
  127. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR., Hum.Genet., 97巻, 5号, pp. 591-595, 19960501
  128. Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221巻, 1号, pp. 199-204., 19960401
  129. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46巻, 4号, pp. 1154-1156, 19960401
  130. Molecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1., Biochem. Biophys. Res. Commun., 220巻, 3号, pp. 754-758, 19960401
  131. Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization., Hum.Genet., 97巻, 3号, pp. 387-9, 19960401
  132. Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46巻, 3号, pp. 846-7, 19960401
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  285. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77巻, 2号, pp. 128-138, 201802
  286. Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2巻, 2014
  287. RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY, RADIATION PROTECTION DOSIMETRY, 180巻, 1-4号, pp. 346-350, 201808
  288. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39巻, 1号, pp. 47-53, 201902
  289. Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations, EUROPEAN JOURNAL OF NEUROLOGY, 26巻, 3号, pp. 506-512, 201903
  290. Characteristics of 5015 Salivary Gland Neoplasms Registered in the Hiroshima Tumor Tissue Registry over a Period of 39 Years, JOURNAL OF CLINICAL MEDICINE, 8巻, 5号, 201905
  291. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65巻, 4号, pp. 363-369, 202004
  292. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21巻, 1号, 20200331
  293. Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525巻, 4号, pp. 889-894, 20200514
  294. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6巻, 1号, 202002
  295. Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86巻, 2号, pp. 153-157, 20190801
  296. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396巻, 1号, pp. 119-120, 20190115
  297. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19巻, 1号, pp. 168, 20190718
  298. Aggressive periodontitis and NOD2 variants, JOURNAL OF HUMAN GENETICS, 65巻, 10号, pp. 841-846, 202010
  299. The first Japanese case of primary familial brain calcification caused by an MYORG variant, JOURNAL OF HUMAN GENETICS, 65巻, 10号, pp. 917-920, 202010
  300. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca(V)3.1 caused by a mutation responsible for spinocerebellar ataxia, MOLECULAR BRAIN, 13巻, 1号, 20201226
  301. Kv11 (ether-a-go-go-related gene) voltage-dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials, JOURNAL OF PHYSIOLOGY-LONDON, 599巻, 2号, pp. 547-569, 202101
  302. Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease, CLINICAL NEUROLOGY AND NEUROSURGERY, 201巻, 202102
  303. An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy, NEUROPATHOLOGY, 41巻, 2号, pp. 118-126, 202104
  304. Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells, ANNALS OF NEUROLOGY, 89巻, 6号, pp. 1226-1233, 202106
  305. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148巻, 202101
  306. Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66巻, 10号, pp. 957-964, 202110
  307. Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University, JOURNAL OF RADIATION RESEARCH, 62巻, pp. I107-I113, 202104
  308. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21巻, 1号, 20211012
  309. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions, DIFFERENTIATION, 123巻, pp. 1-8, 2022

招待講演、口頭・ポスター発表等

  1. ノバルティス老化および老年医学研究基金1998年度受賞者講演 アルツハイマー病に関するグルタミン酸輸送蛋白の分子生物学的研究, 川上 秀史, 第42回日本老年医学会学術集会, 2000年06月, 招待, 日本語
  2. ドーパミントランスポーター遺伝子とパーキンソン病, 川上 秀史, 第3回神経伝達物質研究会, 1999年11月, 招待, 日本語
  3. ドーパミントランスポーターとパーキンソン病, 川上 秀史, 第42回日本神経化学会総会, 1999年09月, 招待, 日本語
  4. 神経疾患とトランスポーターーとくに、ドーパミン、グルタミン酸トランスポーター (DAT、GT) についてー, 川上 秀史, 第21回日本神経科学第41回日本神経化学合同大会, 1998年09月, 招待, 日本語
  5. トランスポーターと神経変性疾患, 川上 秀史, 第39回日本神経学会総会, 1998年05月, 招待, 日本語
  6. 神経疾患診断・治療に対する分子生物学的アプローチ, 川上 秀史, 第46回広島医学会総会, 1993年08月, 招待, 日本語

外部資金

競争的資金等の採択状況

  1. 科学研究費助成事業(基盤研究(A)), 筋萎縮性側索硬化症の新規原因遺伝子の同定と解析, 2021年, 2024年
  2. 難治性疾患実用化研究事業, 変異OPTN病態解明と新規動物モデル開発, 2015年04月01日, 2016年03月31日
  3. 民間からの助成金, 筋萎縮性側索硬化症の分子遺伝学的研究, 2010年
  4. 神経変性疾患に関する調査研究, 2011年
  5. 神経変性疾患に関する調査研究, 2012年
  6. 科学研究費助成事業(基盤研究(A)), 遺伝学的アプローチによる小脳機能障害の解明, 2014年, 2017年
  7. 科学研究費助成事業(基盤研究(A)), 若齢期放射線被曝による晩発障害に関する社会医学的研究, 2012年, 2014年
  8. 科学研究費助成事業(新学術領域研究(研究領域提案型)), オプチニューリン遺伝子異常による脳内環境の変化と神経変性の関わりの解明, 2011年, 2015年
  9. 科学研究費助成事業(基盤研究(C)), ホモ接合ハプロタイプ法による侵襲性歯周炎の疾患関連遺伝子同定, 2011年, 2013年
  10. 科学研究費助成事業(挑戦的萌芽研究), 新たな遺伝学手法による未知の脊髄小脳変性症遺伝子探索, 2011年, 2012年
  11. 科学研究費助成事業(挑戦的萌芽研究), 劣性遺伝解析による侵襲性歯周炎関連遺伝子の同定, 2011年, 2012年
  12. 科学研究費助成事業(基盤研究(C)), ALSにおけるOptineurinの神経細胞毒性に関する分子メカニズムの解明, 2011年, 2013年
  13. 科学研究費助成事業(基盤研究(A)), 原爆被爆者の後障害に関する社会医学的研究, 2009年, 2011年
  14. 科学研究費助成事業(基盤研究(B)), 常染色体劣性脊髄小脳変性症の新規遺伝子, 2007年, 2009年
  15. 科学研究費助成事業(基盤研究(C)), CAGリピートの伸長した新規遺伝子の脊髄小脳失調症への関与, 2006年, 2007年
  16. 科学研究費助成事業(基盤研究(B)), Neurogenesis制御や神経幹細胞補充による虚血性脳損傷修復法の確立, 2004年, 2005年
  17. 科学研究費助成事業(基盤研究(C)), SCA8遺伝子におけるCTA/CTGリピート伸長の病的意義についての検討, 2004年, 2005年
  18. 科学研究費助成事業(特定領域研究), 高密度マイクロサテライトマーカーによるパーキンソン病関連遺伝子の同定, 2003年, 2003年
  19. 科学研究費助成事業(特定領域研究), 高密度マイクロサテライトマーカーによるパーキンソン病関連遺伝子の同定, 2002年, 2002年
  20. 科学研究費助成事業(基盤研究(C)), パーキンソン病発症危険因子としてのトランスポーター遺伝子多型, 2000年, 2001年
  21. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸・ドーパミン輸送蛋白の研究, 2000年, 2000年
  22. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸・ドーパミン輸送蛋白の研究, 1999年, 1999年
  23. 科学研究費助成事業(基盤研究(B)), グルタミン酸輸送蛋白を介する神経変性疾患治療薬の開発, 1998年, 2000年
  24. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸輸送蛋白の薬理学的研究, 1998年, 1998年
  25. 科学研究費助成事業(重点領域研究), 神経変性疾患におけるグルタミン酸輸送蛋白の薬理学的研究, 1997年, 1997年
  26. 科学研究費助成事業(基盤研究(B)), パーキンソン病の分子遺伝学的研究, 1997年, 1998年
  27. 科学研究費助成事業(基盤研究(C)), Machado-Joseph病原因遺伝子MJD1の発現に関する研究, 1996年, 1996年
  28. 科学研究費助成事業(奨励研究(A)), アルツハイマー病患者脳におけるグルタミン酸トランスポーターの研究, 1995年, 1995年
  29. 科学研究費助成事業(奨励研究(A)), アルツハイマー病患者剖検脳におけるグルタミン酸トランスポーターmRNAの変化, 1994年, 1994年
  30. 科学研究費助成事業(一般研究(B)), 若年発症パーキンソニスムについての臨床的、病理学的、分子生物学的研究, 1994年, 1995年
  31. 厚生労働科学研究, 筋萎縮性側索硬化症(ALS)新規治療法開発をめざした病態解明, 2014年06月02日, 2015年03月31日
  32. 科学研究費助成事業(特別研究員奨励費), iPS細胞小脳分化系とモデルマウスを用いた脊髄小脳変性症発症機構の解明, 2016年, 2018年
  33. 科学研究費助成事業(挑戦的萌芽研究), ヒト一倍体細胞を用いた遺伝子トラップ法によるTDP-43関連遺伝子の同定, 2016年, 2017年
  34. 科学研究費助成事業(基盤研究(C)), 家族性侵襲性歯周炎の関連遺伝子同定と病態解析, 2015年, 2018年
  35. 難治性疾患実用化研究事業, 筋委縮性側索硬化症(ALS)新規治療法開発をめざした病態解明, 2016年04月01日, 2017年03月31日

社会活動

委員会等委員歴

  1. 難治疾患研究所教員活動評価専門委員会外部委員, 2013年09月, 2013年09月, 東京医科歯科大学
  2. 非常勤医師, 2013年04月, 2014年03月, (医)楽生会馬場病院
  3. 非常勤医師, 2013年04月, 2014年03月, (医)全仁会倉敷平成病院
  4. 腫瘍登録実務委員会委員, 2012年04月, 2014年03月, 広島県医師会
  5. 評議員, 2012年04月, 2014年03月, (財)広島県地域保健医療推進機構