descriptionPublicationkeyboard_double_arrow_right Article 01 Mar 2013 English Publisher:Elsevier BVJournal:Chemistry & Biology, volume 20, pages 297-298 (issn: 1074-5521,

Authors: Loo, Tip W.; Clarke, David M.;

doi: 10.1016/j.chembiol.2013.03.001

pmid: 23521787

Niemann-Pick NPC1: Sterols to the Rescue and Beyond

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Abstract

In Niemann-Pick type C disease, the most prevalent I1061T mutation inhibits folding and trafficking of the NPC1 protein to the endosomes/lysosomes. In this issue of Chemistry & Biology, Ohgane and colleagues used pharmacological chaperones to repair the defect and identify a second sterol-binding site.

Related Organizations

University of Toronto
Canada

Keywords

Pharmacology, Clinical Biochemistry, Drug Discovery, Molecular Medicine, Biochemistry, Molecular Biology

12 Research products, page 1 of 2

Correction of Niemann-Pick type C1 disease with the histone deacetylase inhibitor valproic acid
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Structure–activity relationships of oxysterol-derived pharmacological chaperones for Niemann–Pick type C1 protein
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Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes
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Transcription profiling of primary skin fibrolasts from Niemann-Pick type C patients homozygous for the I1061T mutation
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A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele
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Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1
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Computational screening of disease associated mutations on NPC1 gene and its structural consequence in Niemann-Pick type-C1
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Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann–Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis*
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Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.
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Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid
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