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Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

Amyotrophic Lateral Sclerosis (ALS) is a motor neuron degenerative disease characterized by a progressive, and ultimately fatal, muscle paralysis. The human VAMP-Associated Protein B (hVAPB) is the causative gene of ALS type 8. Previous studies have shown that a loss-of-function mechanism is respons...

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Detalles Bibliográficos
Autores principales: Sanhueza, Mario, Zechini, Luigi, Gillespie, Trudy, Pennetta, Giuseppa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892161/
https://www.ncbi.nlm.nih.gov/pubmed/24326187
http://dx.doi.org/10.1242/bio.20137070