Associated Papers
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F et al.
International Journal of Neonatal Screening, 2022
Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.
Guan C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C.
Cervera Bravo A et al.
Journal of Pediatric Hematology/oncology, 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
Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2.
Qian H et al.
Cell, 2020
New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L et al.
Molecular Biology Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
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
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
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.
An JY et al.
Translational Psychiatry, 2014
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
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H et al.
Gene, 2012
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
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
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