Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function

Familial amyotrophic lateral sclerosis type 2 (ALS2) is a juvenile autosomal recessive motor neuron disease caused by the mutations in the ALS2 gene. The ALS2 gene product, ALS2/alsin, forms a homophilic oligomer and acts as a guanine nucleotide–exchange factor (GEF) for the small GTPase Rab5. This...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Sato, Kai, Otomo, Asako, Ueda, Mahoko Takahashi, Hiratsuka, Yui, Suzuki-Utsunomiya, Kyoko, Sugiyama, Junya, Murakoshi, Shuji, Mitsui, Shun, Ono, Suzuka, Nakagawa, So, Shang, Hui-Fang, Hadano, Shinji
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2018
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6222102/
https://ncbi.nlm.nih.gov/pubmed/30224357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.003849
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