Disorders of carnitine transport and the carnitine cycle - Wikidata - awgldk - TriplyDB

Disorders of carnitine transport and the carnitine cycle

Disorders of carnitine transport and the carnitine cycle

http://www.wikidata.org/entity/Q24658342

about

Abnormally low serum acylcarnitine levels in narcolepsy patients Strategies of bacterial over expression of membrane transporters relevant in human health: the successful case of the three members of OCTN subfamily Adipose fatty acid oxidation is required for thermogenesis and potentiates oxidative stress-induced inflammation Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons Prognostic Implications of Long-Chain Acylcarnitines in Heart Failure and Reversibility With Mechanical Circulatory Support Fatty acid elongase-5 (Elovl5) regulates hepatic triglyceride catabolism in obese C57BL/6J mice CARNITINE HOMEOSTASIS, MITOCHONDRIAL FUNCTION, AND CARDIOVASCULAR DISEASE.Creatine, L-carnitine, and ω3 polyunsaturated fatty acid supplementation from healthy to diseased skeletal muscle.The cardioprotective effect of mildronate is diminished after co-treatment with L-carnitine.A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.Long-chain acylcarnitines regulate the hERG channel.Epigenome-wide association study of fasting blood lipids in the Genetics of Lipid-lowering Drugs and Diet Network study.Rapamycin and dietary restriction induce metabolically distinctive changes in mouse liver.Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation Intramuscular triacylglycerol and insulin resistance: guilty as charged or wrongly accused?Genotype-phenotype correlation in primary carnitine deficiency Mitochondrial energetics and therapeutics.Carnitine Deficiency and Pregnancy.Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE).Impact of an exercise program on acylcarnitines in obesity: a prospective controlled study Prognostic Metabolite Biomarkers for Soft Tissue Sarcomas Discovered by Mass Spectrometry Imaging.Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Cisplatin-induced downregulation of OCTN2 affects carnitine wasting Longitudinal metabolic imaging of hepatocellular carcinoma in transgenic mouse models identifies acylcarnitine as a potential biomarker for early detection Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association Cardiac magnetic resonance findings in a case of carnitine deficiency.Cardiomyopathy and carnitine deficiency Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.Fatal Nonhepatic Hyperammonemia in ICU Setting: A Rare but Serious Complication following Bariatric Surgery.Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization.Hepatic Fatty Acid Oxidation Restrains Systemic Catabolism during Starvation.Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.Primary myopathies and the heart.Quantification of mitochondrial acetylation dynamics highlights prominent sites of metabolic regulation The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

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P2860

Disorders of carnitine transport and the carnitine cycle

http://www.wikidata.org/entity/Q24658342

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2006 nî lūn-bûn

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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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Disorders of carnitine transport and the carnitine cycle

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P1433

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

P1476

Disorders of carnitine transport and the carnitine cycle

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P2093

Cristina Amat di San Filippo

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Marzia Pasquali

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Nicola Longo

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P2860

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

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10.1002/AJMG.C.30087

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2

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142C

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7177929

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16602102

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2557099

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