Associated Papers
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
Best HL et al.
International Journal of Molecular Sciences, 2025
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.
Liedtke M et al.
Cells, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T.
Liedtke M et al.
International Journal of Molecular Sciences, 2021
Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain.
Liu EA et al.
Jci Insight, 2020
Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein.
Petersen D et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Völkner C et al.
Stem Cell Research, 2019
Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts.
Berzina Z et al.
Chemistry and Physics of Lipids, 2018
HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
Li S et al.
Molecular Biosystems, 2016
26661679 (PubMed )
Supplement: supp_c5mb00681c3.pdf
Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.
Wang ML et al.
Cell Metabolism, 2010
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K et al.
Human Mutation, 2005
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
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