Associated Papers
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo D et al.
Journal of Medical Genetics, 2024
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
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
Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.
Suda K et al.
Cancer Science, 2020
32473611 (PubMed )
Supplement: CAS-111-3000-s008.xls › Sheet1
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
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
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
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.
Chien YH et al.
Journal of Inherited Metabolic Disease, 2013
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Yang CC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
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
Select a paper to view details