Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. - Wikidata - awgldk - TriplyDB

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

http://www.wikidata.org/entity/Q34112998

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Niemann-Pick disease type C NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease The pathogenesis of Niemann-Pick type C disease: a role for autophagy?Diagnostic workup and management of patients with suspected Niemann-Pick type C disease Genetic and laboratory diagnostic approach in Niemann Pick disease type C Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2.Activation mobilizes the cholesterol in the late endosomes-lysosomes of Niemann Pick type C cells Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid Multi-system disorders of glycosphingolipid and ganglioside metabolism 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.Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation.Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.Prenatal diagnosis of Niemann-Pick diseases types A, B and C.Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish.Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat Expression of Penaeus monodon ortholog of Niemann-Pick type C-2 in the spermatic tract, and its role in sperm cholesterol removal.Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice.NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein.Long-term miglustat therapy in children with Niemann-Pick disease type C.Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders.Mechanistic similarities between cultured cell models of cystic fibrosis and niemann-pick type C.The Spectrum of Niemann-Pick Type C Disease in Greece.Niemann-Pick disease type C in the newborn period: a single-center experience.Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

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Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

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2001 nî lūn-bûn

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2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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American Journal of Human Genetics

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Niemann-Pick disease type C: s ...... orrelations in the NPC2 group.

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A H Fensom

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D E Sleat

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G Millat

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P2860

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-acti

Identification of HE1 as the second gene of Niemann-Pick C disease

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

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.

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

A simple salting out procedure for extracting DNA from human nucleated cells

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

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1013-1021

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10.1086/324068

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5

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69

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