Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Chloride Homeostasis Regulates cGAS-STING Signaling.
Morse J et al.
Biorxiv : the Preprint Server for Biology, 2024
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C et al.
Biomolecules, 2024
Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.
Kraus D et al.
Children (basel, Switzerland), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Etiology of neonatal cholestasis after emerging molecular diagnostics.
Wang H et al.
Translational Pediatrics, 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
Normal long-term neurologic and graft outcome after liver transplantation in an infant with Neimann-Pick type C disease.
Lemoine CP et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2022
Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.
Groenen AG et al.
Journal of Lipid Research, 2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
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
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 2020
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T et al.
Neurology, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
Computational Tools Unravel Putative Sterol Binding Sites in the Lysosomal NPC1 Protein.
Elghobashi-Meinhardt N
Journal of Chemical Information and Modeling, 2019
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.
Shammas H et al.
Scientific Reports, 2019
Insights into the Molecular Mechanisms of Cholesterol Binding to the NPC1 and NPC2 Proteins.
Cologna SM et al.
Advances in Experimental Medicine and Biology, 2019
Pulmonary involvement in Niemann-Pick C type 1.
Staretz-Chacham O et al.
European Journal of Pediatrics, 2018
GEX1A, a Polyketide from Streptomyces chromofuscus, Corrects the Cellular Defects Associated with Niemann-Pick Type C1 in Human Fibroblasts.
Granatosky EA et al.
Journal of Natural Products, 2018
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
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
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
Imrie J et al.
Bmc Neurology, 2015
Complex lipid trafficking in Niemann-Pick disease type C.
Vanier MT
Journal of Inherited Metabolic Disease, 2015
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
Deffieu MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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 NPC1 protein: structure implies function.
Scott C et al.
Biochimica Et Biophysica Acta, 2004
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
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
Millat G et al.
American Journal of 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
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
Meiner V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy.
Wang L et al.
Indian Journal of Pathology & Microbiology, 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