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Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. Endogenous ALS2 is shown here to be enrich...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC307689/ https://ncbi.nlm.nih.gov/pubmed/14668431 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2635267100 |
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