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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists
2013
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| 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 |