Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Shammas H et al.
Molecular Genetics and Metabolism, 2025
Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.
Zhao XY et al.
Neural Regeneration Research, 2025
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY et al.
International Journal of Molecular Sciences, 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
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C et al.
Orphanet Journal of Rare Diseases, 2023
Saturation variant interpretation using CRISPR prime editing.
Erwood S et al.
Nature Biotechnology, 2022
Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study.
Pepponi R et al.
International Journal of Molecular Sciences, 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
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Jeyaraj R et al.
Genes, 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
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 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
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Wang C et al.
Human Molecular Genetics, 2020
Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases.
Schultz ML et al.
Bmc Medicine, 2019
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.
Moreau D et al.
Embo Reports, 2019
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Schultz ML et al.
Nature Communications, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Schwerd T et al.
Gut, 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
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.
Evans WRH et al.
Wellcome Open 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
Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients.
García-Robles AA et al.
Journal of the Neurological Sciences, 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
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
ABCA1-dependent sterol release: sterol molecule specificity and potential membrane domain for HDL biogenesis.
Yamauchi Y et al.
Journal of Lipid Research, 2016
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
Cologna SM et al.
Journal of Inherited Metabolic Disease, 2014
Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.
Granic A et al.
Plos One, 2013
Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.
Yu T et al.
Human Molecular Genetics, 2012
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B et al.
Orphanet Journal of Rare Diseases, 2012
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
Garver WS et al.
Journal of Lipid Research, 2010
The natural history of Niemann-Pick disease type C in the UK.
Imrie J et al.
Journal of Inherited Metabolic Disease, 2007
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
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T et al.
Human Genetics, 0
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G et al.
Molecular Genetics and Metabolism, 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