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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756276/
https://www.ncbi.nlm.nih.gov/pubmed/28780615
http://dx.doi.org/10.1007/s00401-017-1756-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756276/
https://www.ncbi.nlm.nih.gov/pubmed/28780615
http://dx.doi.org/10.1007/s00401-017-1756-0

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