Article
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.
Molecular genetics and metabolism - 1 Jan 2000
Rodriguez-Gil Jorge L, Larson Denise M, Wassif Christopher A, Yanjanin Nicole M, Anderson Stacie M, Kirby Martha R, Trivedi Niraj S, Porter Forbes D, Pavan William J
Abstract excerpt
Mutations in individuals with the lysosomal storage disorder Niemann-Pick disease, type C1 (NPC1) are heterogeneous, not localized to specific protein domains, and not correlated to time of onset or disease severity. We demonstrate direct correlation of the time of neurological symptom onset with the severity of lysosomal defects in NPC1 patient-derived fibroblasts. This is a novel assay for NPC1 individuals that...
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