Article
ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV.
Genetics - 1 Feb 2016
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
Abstract excerpt
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 is CUP-5; loss of CUP-5 results in lysosomal dysfunction in many tissues and death of developing intestinal cells...
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