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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...

詳細記述

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書誌詳細
出版年:Genetics
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Genetics Society of America 2016
主題:
オンライン・アクセス: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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