Article
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.
Pediatric research - 1 Jun 2008
Rusyn Elena, Mousallem Talal, Persaud-Sawin Dixie-Ann, Miller Sara, Boustany Rose-Mary N
Abstract excerpt
Juvenile neuronal ceroid lipofuscinosis (JNCL) belongs to the neuronal ceroid lipofuscinoses characterized by blindness/seizures/motor/cognitive decline and early death. JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis. CLN3 protein (CLN3p) localizes to Golgi/Rab4-/Rab11-positive endosomes and lipid rafts, and harbors a galactosylceramide (GalCer) lipid raft-binding domain....
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