Associated Papers
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
Best HL et al.
International Journal of Molecular Sciences, 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Nunes MJ et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
Las Heras M et al.
Npj Genomic Medicine, 2023
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.
Liedtke M et al.
Cells, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T.
Liedtke M et al.
International Journal of Molecular Sciences, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain.
Liu EA et al.
Jci Insight, 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
Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein.
Petersen D et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Völkner C et al.
Stem Cell Research, 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M et al.
American Journal of Medical Genetics. Part A, 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
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
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
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Jahnova H et al.
Orphanet Journal of Rare Diseases, 2014
Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.
Breen C et al.
Molecular Genetics and Metabolism, 2013
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
Fecarotta S et al.
American Journal of Medical Genetics. Part A, 2011
Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation.
Csepeggi C et al.
The Journal of Biological Chemistry, 2011
Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease.
Nielsen GK et al.
Plos One, 2011
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
Hernandez MA et al.
Orphanet Journal of Rare Diseases, 2010
Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.
Bonney DK et al.
Journal of Inherited Metabolic Disease, 2010
Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.
Wang ML et al.
Cell Metabolism, 2010
[Therapies in the Niemann-Pick type C disease].
Chabrol B
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2010
[Advances in elucidating the pathophysiology and targeting therapy to treat Niemann-Pick type C disease].
Ohno K
No to Hattatsu = Brain and Development, 2010
Cholesterol involvement in the pathogenesis of neurodegenerative diseases.
Liu JP et al.
Molecular and Cellular Neurosciences, 2010
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T et al.
Neurogenetics, 2009
NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H et al.
Human Mutation, 2008
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
Ohsaki Y et al.
Journal of Cell Science, 2006
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K et al.
Human Mutation, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
Chikh K et al.
Molecular Genetics and Metabolism, 2004
Structure and function of the NPC2 protein.
Vanier MT 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
NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.
Frolov A et al.
The Journal of Biological Chemistry, 2003
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
Millat G et al.
American Journal of Human Genetics, 2001
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
Identification of HE1 as the second gene of Niemann-Pick C disease.
Naureckiene S et al.
Science (new York, N.y.), 2000