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New variants in Spanish Niemann-Pick type c disease patients.

Molecular biology reports - 1 Mar 2020

López de Frutos Laura, Cebolla Jorge J, Aldámiz-Echevarría Luis, de la Vega Ángela, Stanescu Sinziana, Lahoz Carlos, Irún Pilar, Giraldo Pilar

Abstract excerpt

Niemann-Pick type C (NPC) disease is a rare inherited disease, with progressive neurodegeneration as the main symptom. It is a lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes, leading to a lysosomal cholesterol trafficking impairment. Disease indicators are the clinical suspicion and biomarker levels. However, a genetic study is mandatory for the diagnosis, which is complicated due to the...

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Biomarkers
Computational Biology
Databases, Genetic
Intracellular Signaling Peptides and Proteins
Niemann-Pick C1 Protein

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Niemann-Pick Disease, Type C

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PMID: 32060698
DOI: 10.1007/s11033-020-05308-7

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