Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
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
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.
Shammas H et al.
Scientific Reports, 2019
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
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
27139891 (PubMed )
Supplement: FEB2-590-1651-s001.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
Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop.
Infante RE et al.
The Journal of Biological Chemistry, 2008
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
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Ebrahimi-Fakhari D et al.
Movement Disorders Clinical Practice, 0
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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