Journal
MOLECULAR GENETICS AND METABOLISM
Volume 110, Issue 1-2, Pages 188-190Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2013.06.010
Keywords
Niemann-Pick disease, type C1; NPC1; Lysosomal storage disorders; Neurodegenerative disorders
Funding
- National Human Genome Research Institute, National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Ara Parseghian Medical Research Foundation
- Office of Rare Diseases
- National Institutes of Health Clinical Center
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [ZIAHD000139, ZIAHD008824] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG000068, ZICHG200350] Funding Source: NIH RePORTER
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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. Published by Elsevier Inc.
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