Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
about
Identification of STAT5A and STAT5B target genes in human T cellsDisorders of carnitine transport and the carnitine cycleNew insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscleStrategies of bacterial over expression of membrane transporters relevant in human health: the successful case of the three members of OCTN subfamilyDistinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genomeFunctional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporterA missense mutation in the OCTN2 gene associated with residual carnitine transport activityGenetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyExpression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cellsDevelopment and characterization of an animal model of carnitine deficiencyAccumulation of mini-plasmin in the cerebral capillaries causes vascular invasion of the murine brain by a pneumotropic influenza A virus: implications for influenza-associated encephalopathyGenomic interval engineering of mice identifies a novel modulator of triglyceride productionCarnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) MiceMolecular and functional characterization of organic cation/carnitine transporter family in miceCaveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2): effect of protein kinase C on this interaction in rat astrocytesIdentification and functional characterization of a novel human and rat riboflavin transporter, RFT1beta-lactam antibiotics as substrates for OCTN2, an organic cation/carnitine transporterDysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis miceA mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Research Resource: Hormones, Genes, and Athleticism: Effect of Androgens on the Avian Muscular TranscriptomeLocalization of organic cation/carnitine transporter (OCTN2) in cells forming the blood-brain barrier.Pharmacogenomics of diuretic drugs: data on rare monogenic disorders and on polymorphisms and requirements for further research.Gene expression in a Drosophila model of mitochondrial disease.Active efflux across the blood-brain barrier: role of the solute carrier family.Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Inborn errors of mitochondrial fatty acid oxidation.Structure of renal organic anion and cation transporters.Novel inhibitors of human organic cation/carnitine transporter (hOCTN2) via computational modeling and in vitro testingFunctional relevance of carnitine transporter OCTN2 to brain distribution of L-carnitine and acetyl-L-carnitine across the blood-brain barrier.Role of plasma membrane transporters in muscle metabolism.Small molecular drug transfer across the blood-brain barrier via carrier-mediated transport systems.Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.Colon OCTN2 gene expression is up-regulated by peroxisome proliferator-activated receptor gamma in humans and mice and contributes to local and systemic carnitine homeostasisCytokine regulation of OCTN2 expression and activity in small and large intestineQuantitative structure activity relationship for inhibition of human organic cation/carnitine transporter.Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory responseRole of ATP-binding cassette and solute carrier transporters in erlotinib CNS penetration and intracellular accumulation.Carnitine biosynthesis in mammals.State of the art in muscle lipid diseases.
P2860
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P2860
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Primary systemic carnitine def ...... ependent carnitine transporter
@ast
Primary systemic carnitine def ...... ependent carnitine transporter
@en
Primary systemic carnitine def ...... ependent carnitine transporter
@en-gb
Primary systemic carnitine def ...... ependent carnitine transporter
@nl
type
label
Primary systemic carnitine def ...... ependent carnitine transporter
@ast
Primary systemic carnitine def ...... ependent carnitine transporter
@en
Primary systemic carnitine def ...... ependent carnitine transporter
@en-gb
Primary systemic carnitine def ...... ependent carnitine transporter
@nl
prefLabel
Primary systemic carnitine def ...... ependent carnitine transporter
@ast
Primary systemic carnitine def ...... ependent carnitine transporter
@en
Primary systemic carnitine def ...... ependent carnitine transporter
@en-gb
Primary systemic carnitine def ...... ependent carnitine transporter
@nl
P2093
P2860
P3181
P356
P1433
P1476
Primary systemic carnitine def ...... ependent carnitine transporter
@en
P2093
G Tsujimoto
H Yabuuchi
J Hayakawa
P2860
P2888
P3181
P356
10.1038/5030
P407
P577
1999-01-01T00:00:00Z
P5875
P6179
1018881389