Associated Papers
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
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y et al.
Orphanet Journal of Rare Diseases, 2018
30285904 (PubMed )
Supplement: 13023_2018_913_MOESM1_ESM.docx
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
The NPC1 protein: structure implies function.
Scott C et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X et al.
American Journal of Human Genetics, 2001
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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