| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○招待 (推奨): |
| ○審査 (推奨): |
| ○カテゴリ (推奨): |
| ○共著種別 (推奨): | □ | 国内共著 (徳島大学内研究者と国内(学外)研究者との共同研究 (国外研究者を含まない))
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| ○学究種別 (推奨): |
| ○組織 (推奨): |
| ○著者 (必須): | 1. | 宮本 亮介 ([徳島大学.病院.診療科.内科.脳神経内科])
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| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
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| 2. | 坂根 亜由子 ([徳島大学.フォトニクス健康フロンティア研究院])
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| ○学籍番号 (推奨): |
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| 3. | 森野 豊之 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.生理系.遺伝情報医学])
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| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
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| 4. | (英) Kume Kodai (日) (読)
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| 5. | (英) Matsubara Tomoyasu (日) (読)
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| 6. | (英) Fukumoto Tatsuya (日) (読)
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| 7. | (英) Osaki Yusuke (日) (読)
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| 8. | (英) Oki Ryosuke (日) (読)
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| 9. | (英) Hanada Kenta (日) (読)
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| 10. | (英) Tachibana Konoka (日) (読)
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| [継承] |
| 11. | 中瀧 理仁 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.精神医学]/[徳島大学.病院.診療科.脳·神経·精神科.精神科神経科])
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| ○学籍番号 (推奨): |
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| 12. | (英) Nishida Yoshihiko (日) (読)
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| [継承] |
| 13. | (英) Takahashi Yuji (日) (読)
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| 14. | (英) Mizuguchi Kenji (日) (読)
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| 15. | (英) Murayama Shigeo (日) (読)
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| 16. | (英) Saito Yuko (日) (読)
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| 17. | (英) Kawakami Hideshi (日) (読)
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| 18. | (英) Takai Yoshimi (日) (読)
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| 19. | (英) Sasaki Takuya (日) (読)
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| 20. | 和泉 唯信 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.臨床神経科学]/[徳島大学.病院.診療科.内科.脳神経内科])
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| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
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| ○題名 (必須): | □ | (英) An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia. (日)
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| ○要約 (任意): | □ | (英) Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C > T p.(Arg83Trp) variant in RAB3A, encoding a small GTPase involved in membrane-associated regulated exocytosis, in two families with cerebellar ataxia. Affected individuals presented with adult-onset, gradually progressive cerebellar symptoms, often accompanied by mild gait spasticity and tremors. Variable features of neurodevelopmental disorders were also observed. Brain MRI consistently revealed cerebellar atrophy, often accentuated in the vermis, and neuropathological examinations demonstrated diffuse cerebellar cortical degeneration. Functionally, the R83W mutation lies within the conserved switch II region of Rab3A, a domain critical for effector interaction. Although the mutant Rab3A R83W retained GTP-binding affinity, it failed to bind the key effector proteins RIM1 and Rabphilin-3A, highlighting the functional importance of R83 in effector complex formation, as supported by structural analysis. In PC12 cells, the R83W mutant exhibited diffuse cytoplasmic localization, in contrast to the vesicle- and neurite-tip localization of the wild-type and GTP-bound Rab3A mutant. The concordant localization pattern of R83W and GDP-bound Rab3A mutants suggests that R83W-induced mislocalization results from a failure to engage downstream effector proteins. In the cerebellum, Rab3A was predominantly localized to parallel fiber terminals and was absent from postsynaptic Purkinje cells. These findings suggest that disruption of the interaction between Rab3A and its effector proteins may underlie disease pathogenesis, possibly involving presynaptic dysfunction at parallel fiber-Purkinje cell synapses mediated by the Rab3A-RIM1 complex. (日)
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| ○キーワード (推奨): | 1. | (英) Humans (日) (読)
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| 2. | (英) rab3A GTP-Binding Protein (日) (読)
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| 3. | (英) Male (日) (読)
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| 4. | (英) Female (日) (読)
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| 5. | (英) Cerebellar Ataxia (日) (読)
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| 6. | (英) Adult (日) (読)
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| 7. | (英) Middle Aged (日) (読)
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| 8. | (英) Pedigree (日) (読)
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| 9. | (英) Mutation (日) (読)
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| 10. | (英) Animals (日) (読)
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| 11. | (英) Rats (日) (読)
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| 12. | (英) PC12 Cells (日) (読)
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| 13. | (英) Cerebellum (日) (読)
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| 14. | (英) Rabphilin-3A (日) (読)
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| ○発行所 (推奨): |
| ○誌名 (必須): | □ | Human Molecular Genetics ([Oxford University Press])
(pISSN: 0964-6906, eISSN: 1460-2083)
| ○ISSN (任意): | □ | 1460-2083
ISSN: 0964-6906
(pISSN: 0964-6906, eISSN: 1460-2083) Title: Human molecular geneticsTitle(ISO): Hum Mol GenetSupplier: Oxford University PressPublisher: Oxford University Press (NLM Catalog)
(Scopus)
(CrossRef)
(Scopus information is found. [need login]) | [継承] |
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| ○巻 (必須): | □ | 35
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| ○号 (必須): | □ | 3
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| ○頁 (必須): | □ |
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| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2026年 1月 6日 (令和 8年 1月 6日)
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| ○URL (任意): |
| ○DOI (任意): | □ | 10.1093/hmg/ddaf186 (→Scopusで検索)
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| ○PMID (任意): | □ | 41492970 (→Scopusで検索)
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| ○CRID (任意): |
| ○Scopus (任意): | 1. | 2-s2.0-105030023903
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| ○備考 (任意): | 1. | (英) PublicationType: Journal Article (日)
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