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ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV

Mutations in MCOLN1, which encodes the cation channel protein TRPML1, result in the neurodegenerative lysosomal storage disorder Mucolipidosis type IV. Mucolipidosis type IV patients show lysosomal dysfunction in many tissues and neuronal cell death. The ortholog of TRPML1 in Caenorhabditis elegans...

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Detalhes bibliográficos
Publicado no:Genetics
Main Authors: Huynh, Julie M., Dang, Hope, Munoz-Tucker, Isabel A., O’Ketch, Marvin, Liu, Ian T., Perno, Savannah, Bhuyan, Natasha, Crain, Allison, Borbon, Ivan, Fares, Hanna
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4788239/
https://ncbi.nlm.nih.gov/pubmed/26596346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.115.182485
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