Associated Papers
Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study.
Pepponi R et al.
International Journal of Molecular Sciences, 2022
Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
Villemagne VL et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2019
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Schultz ML et al.
Nature Communications, 2018
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
26890452 (PubMed )
Supplement: gim2015208x1.zip › S1_Table.xls › Sheet1
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
27238017 (PubMed )
Supplement: mmc1.pdf
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.
Yu T et al.
Human Molecular Genetics, 2012
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
Garver WS et al.
Journal of Lipid Research, 2010
The NPC1 protein: structure implies function.
Scott C 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
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
36264126 (PubMed )
Supplement: supplement_1.docx
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