A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot–Marie–Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis l...

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書誌詳細
出版年:Acta Neuropathol
主要な著者: Bouhy, Delphine, Juneja, Manisha, Katona, Istvan, Holmgren, Anne, Asselbergh, Bob, De Winter, Vicky, Hochepied, Tino, Goossens, Steven, Haigh, Jody J., Libert, Claude, Ceuterick-de Groote, Chantal, Irobi, Joy, Weis, Joachim, Timmerman, Vincent
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2017
主題:
Original Paper
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5756276/
https://ncbi.nlm.nih.gov/pubmed/28780615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-017-1756-0
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