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Article

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease.

Archives of biochemistry and biophysics - 1 Mar 2016

Woś Marcin, Szczepanowska Joanna, Pikuła Sławomir, Tylki-Szymańska Anna, Zabłocki Krzysztof, Bandorowicz-Pikuła Joanna

Abstract excerpt

Mutations in the NPC1 or NPC2 genes lead to Niemann-Pick type C (NPC) disease, a rare lysosomal storage disorder characterized by progressive neurodegeneration. These mutations result in cholesterol and glycosphingolipid accumulation in the late endosomal/lysosomal compartment. Complications in the storage of cholesterol in NPC1 mutant cells are associated with other anomalies, such as altered distribution of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Potential, Mitochondrial

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Source

Identifiers

PMID: 26869201
DOI: 10.1016/j.abb.2016.02.012

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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