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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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Главные авторы: | , , , , , |
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Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
National Academy of Sciences
2003
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Предметы: | |
Online-ссылка: | 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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