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A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2013 Sep-Oct; Vol. 110 (1-2), pp. 188-90. Date of Electronic Publication: 2013 Jun 21. - Publication Year :
- 2013
-
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.<br /> (Published by Elsevier Inc.)
- Subjects :
- Adolescent
Adult
Biological Transport genetics
Cells, Cultured
Child
Child, Preschool
Disease Progression
Female
Fibroblasts
Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases metabolism
Lysosomal Storage Diseases pathology
Lysosomes genetics
Lysosomes pathology
Male
Membrane Glycoproteins metabolism
Mutation
Neurodegenerative Diseases genetics
Neurodegenerative Diseases pathology
Niemann-Pick Disease, Type C metabolism
Niemann-Pick Disease, Type C pathology
Protein Structure, Tertiary
Lysosomal Storage Diseases genetics
Lysosomes metabolism
Membrane Glycoproteins genetics
Niemann-Pick Disease, Type C genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 110
- Issue :
- 1-2
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 23850077
- Full Text :
- https://doi.org/10.1016/j.ymgme.2013.06.010