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Loss of Lysosomal Ion Channel Transient Receptor Potential Channel Mucolipin-1 (TRPML1) Leads to Cathepsin B-dependent Apoptosis

Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the gene MCOLN1, which codes for the transient receptor potential family ion channel TRPML1. MLIV has an early onset and is characterized by developmental delays, motor and cognitive deficiencies, gastric abnormalitie...

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Detalhes bibliográficos
Main Authors: Colletti, Grace A., Miedel, Mark T., Quinn, James, Andharia, Neel, Weisz, Ora A., Kiselyov, Kirill
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3318733/
https://ncbi.nlm.nih.gov/pubmed/22262857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.285536
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