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TorsinA in the nuclear envelope

Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in the endoplasmic reticulum, but what it does is unknown. Here, we use torsinA mutants with defects in ATP hydrolysis (E...

詳細記述

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書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: Naismith, Teresa V., Heuser, John E., Breakefield, Xandra O., Hanson, Phyllis I.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2004
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC419654/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15136718/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0308760101
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