The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. - Wikidata - wikimedia - TriplyDB

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

http://www.wikidata.org/entity/Q33577880

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Niemann-Pick disease type C Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician Activation mobilizes the cholesterol in the late endosomes-lysosomes of Niemann Pick type C cells Reduced VLDL clearance in Apoe(-/-)Npc1(-/-) mice is associated with increased Pcsk9 and Idol expression and decreased hepatic LDL-receptor levels.The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight.Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity.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.Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism Altered vitamin E status in Niemann-Pick type C disease.Gene-diet interactions in childhood obesity.Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes.The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Genome sequencing in a case of Niemann-Pick type C Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca2+ storage.Genetics of cholesterol efflux.Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Exacerbating and reversing lysosomal storage diseases: from yeast to humans.Positive Selection Drives Evolution at the Host-Filovirus Interaction Surface.An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.Non-transplantation surgical approach for chronic intestinal pseudo-obstruction: analysis of 63 adult consecutive cases.Niemann-Pick disease type C: analysis of 7 patients.Niemann-Pick disease type C in the newborn period: a single-center experience.Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.Niemann-Pick type C2 protein supplementation in experimental non-alcoholic fatty liver disease.

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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

http://www.wikidata.org/entity/Q33577880

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2009 nî lūn-bûn

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2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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The National Niemann-Pick Type ...... s, and biochemical phenotypes.

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Journal of Lipid Research

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The National Niemann-Pick Type ...... s, and biochemical phenotypes.

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Cate M Walsh Vockley

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David Jelinek

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F John Meaney

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Glen Shepherd

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Gordon A Francis

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Graciela Castro

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James Flynn

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Kathleen M Pettit

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Randall A Heidenreich

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William S Garver

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P2860

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

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

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

Linkage of Niemann-Pick disease type C to human chromosome 18

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

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406-415

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10.1194/JLR.P000331

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2

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51

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2803243

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