Back to Search Start Over

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.

Authors :
Rodriguez-Gil JL
Larson DM
Wassif CA
Yanjanin NM
Anderson SM
Kirby MR
Trivedi NS
Porter FD
Pavan WJ
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.)

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