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

Autor:	Jorge L. Rodriguez-Gil, Stacie M. Anderson, Martha Kirby, Nicole M. Yanjanin, Denise M. Larson, Christopher A. Wassif, William J. Pavan, Niraj S. Trivedi, Forbes D. Porter
Rok vydání:	2013
Předmět:	Adult Male Specific protein congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Adolescent Somatic cell Endocrinology Diabetes and Metabolism Disease Biochemistry Article Endocrinology Disease severity hemic and lymphatic diseases Genetics Lysosomal storage disease medicine Humans Symptom onset Child Molecular Biology Cells Cultured Membrane Glycoproteins business.industry Disease progression Infant Newborn Infant nutritional and metabolic diseases Biological Transport Neurodegenerative Diseases Niemann-Pick Disease Type C Fibroblasts medicine.disease Protein Structure Tertiary nervous system diseases Lysosomal Storage Diseases Child Preschool Mutation Immunology Disease Progression Female lipids (amino acids peptides and proteins) NPC1 Lysosomes business
Zdroj:	Molecular Genetics and Metabolism. 110:188-190
ISSN:	1096-7192
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400942959ddf8eaeff9d652419ec63b6 https://doi.org/10.1016/j.ymgme.2013.06.010 Zobrazit plný text záznamu Full Text from ScienceDirect