Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency-Reference-Cited by-同舟云学术

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Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency

Published:1999-04-01 Issue:4 Volume:8 Page:655-660
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Tang N. L. S.,Ganapathy V.,Wu X.,Hui J.,Seth P.,Yuen P. M. P.,Fok T. F.,Hjelm N. M.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference24 articles.

1. Primary systemic carnitine dehciency. II. Renal handling of carnitine

2. The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

3. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

4. Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

5. Characterization of the Human Plasmalemmal Carnitine Transporter in Cultured Skin Fibroblasts

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1. The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation;International Journal of Molecular Sciences;2024-08-10

2. Unraveling cardiomyocyte responses and intercellular communication alterations in primary carnitine deficiency cardiomyopathy via single-nucleus RNA sequencing;Heliyon;2024-07

3. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-07-01

4. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-05-31

5. Impact of 1α,25-dihydroxyvitamin D3 on biodistribution and pharmacokinetics of L-carnitine and creatinine, organic cation/carnitine transporter 2 and organic cation transporter 2 biomarkers;Journal of Pharmaceutical Investigation;2024-02-07

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