Associated Papers
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY et al.
International Journal of Molecular Sciences, 2024
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Liang H et al.
Journal of Inherited Metabolic Disease, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Kresojević N et al.
Journal of Neurology, 2022
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
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C et al.
International Journal of Molecular Sciences, 2021
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
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M et al.
Molecular Genetics & Genomic Medicine, 2020
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
Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.
Hastings C et al.
Orphanet Journal of Rare Diseases, 2019
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
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T et al.
Orphanet Journal of Rare Diseases, 2018
Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.
Formichi P et al.
Journal of Cellular Physiology, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH et al.
Journal of Lipid Research, 2017
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
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D et al.
Human Molecular Genetics, 2016
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2015
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Deng H et al.
Molecular Neurobiology, 2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Abela L et al.
Orphanet Journal of Rare Diseases, 2014
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Kluenemann HH et al.
Journal of the Neurological Sciences, 2013
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Stampfer M et al.
Orphanet Journal of Rare Diseases, 2013
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
Pérez-Poyato MS et al.
Gene, 2012
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Di Leo E et al.
Human Mutation, 2004
The NPC1 protein: structure implies function.
Scott C et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Ribeiro I et al.
Human Genetics, 2001
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