Functional Domains in the Carnitine Transporter OCTN2, Defective in Primary Carnitine Deficiency
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference23 articles.
1. Primary and secondary alterations of neonatal carnitine metabolism
2. cDNA Sequence, Transport Function, and Genomic Organization of Human OCTN2, a New Member of the Organic Cation Transporter Family
3. Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2
4. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
5. Phenotype and genotype variation in primary carnitine deficiency
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1. L-Carnitine Functionalization to Increase Skeletal Muscle Tropism of PLGA Nanoparticles;International Journal of Molecular Sciences;2022-12-24
2. Intronic variants in inborn errors of metabolism: Beyond the exome;Frontiers in Genetics;2022-12-06
3. Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation;Journal of Investigative Medicine High Impact Case Reports;2021-01
4. Functional analysis of OCTN2 and ATB0,+ in normal human airway epithelial cells;2019-05-13
5. Maternal Plasma l-Carnitine Reduction During Pregnancy Is Mainly Attributed to OCTN2-Mediated Placental Uptake and Does Not Result in Maternal Hepatic Fatty Acid β-Oxidation Decline;Drug Metabolism and Disposition;2019-03-27
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