SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a mu...

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Hlavní autoři: Rubino, Elisa, Rainero, Innocenzo, Chiò, Adriano, Rogaeva, Ekaterina, Galimberti, Daniela, Fenoglio, Pierpaola, Grinberg, Yakov, Isaia, Giancarlo, Calvo, Andrea, Gentile, Salvatore, Bruni, Amalia Cecilia, St. George-Hyslop, Peter Henry, Scarpini, Elio, Gallone, Salvatore, Pinessi, Lorenzo
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3655323/
https://ncbi.nlm.nih.gov/pubmed/22972638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31826e25df
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