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Mol Genet Metab. 2013 Sep-Oct;110(1-2):188-90. doi: 10.1016/j.ymgme.2013.06.010. Epub 2013 Jun 21.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Author information

1
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

Abstract

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 may be predictive of NPC1 disease progression and broadly applicable to other lysosomal disorders.

KEYWORDS:

Lysosomal storage disorders; NPC1; Neurodegenerative disorders; Niemann–Pick disease, type C1

PMID:
23850077
PMCID:
PMC3775472
DOI:
10.1016/j.ymgme.2013.06.010
[Indexed for MEDLINE]
Free PMC Article

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