Associated Papers
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Shammas H et al.
Molecular Genetics and Metabolism, 2025
mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.
Furtado D et al.
Molecular Pharmaceutics, 2022
36125338 (PubMed )
Supplement: mp2c00463_si_001.pdf
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.
Reynolds M et al.
Molecular Genetics and Metabolism Reports, 2021
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 2021
34086834 (PubMed )
Supplement: pone.0252825.s001.pdf
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.
Dubey V et al.
Plos Computational Biology, 2020
Computational Tools Unravel Putative Sterol Binding Sites in the Lysosomal NPC1 Protein.
Elghobashi-Meinhardt N
Journal of Chemical Information and Modeling, 2019
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
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
26981555 (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
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
Deffieu MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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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