Associated Papers
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Yau WY et al.
Brain Communications, 2025
Rosa canina L. Methanol Extract and Its Component Rutin Reduce Cholesterol More Efficiently than Miglustat in Niemann-Pick C Fibroblasts.
Wanes D et al.
International Journal of Molecular Sciences, 2024
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 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
Chloride Homeostasis Regulates cGAS-STING Signaling.
Morse J et al.
Biorxiv : the Preprint Server for Biology, 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
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
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
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
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Völkner C et al.
International Journal of Molecular Sciences, 2021
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder.
Contreras PS et al.
Iscience, 2020
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
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.
Yañez MJ et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M et al.
Molecular Neurobiology, 2019
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Deodato F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
Cervera-Gaviria M et al.
Bmc Neurology, 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
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
Electrophysiological characterization of adult-onset Niemann-Pick type C disease.
Iodice R et al.
Journal of the Neurological Sciences, 2015
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Macías-Vidal J et al.
The Febs Journal, 2014
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
Manganelli F et al.
Journal of Neurology, 2014
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
Piña-Aguilar RE et al.
Case Reports in Neurological Medicine, 2014
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
Bergamin N et al.
Orphanet Journal of Rare Diseases, 2013
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
Zampieri S et al.
Jimd Reports, 2012
The natural history of Niemann-Pick disease type C in the UK.
Imrie J et al.
Journal of Inherited Metabolic Disease, 2007
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
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