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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Genetics Society of America 2016
Fag:
Investigations
Online adgang: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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