Associated Papers
Structural basis of sodium ion-dependent carnitine transport by OCTN2.
Davies JS et al.
Nature Communications, 2025
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Carnitine traffic and human fertility.
Mazza T et al.
Biochemical Pharmacology, 2024
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG et al.
Bmc Cardiovascular Disorders, 2024
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Crefcoeur LL et al.
Journal of Inherited Metabolic Disease, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Carnitine Traffic in Cells. Link With Cancer.
Console L et al.
Frontiers in Cell and Developmental Biology, 2020
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
Filippo CA et al.
Biochimica Et Biophysica Acta, 2011
Novel inhibitors of human organic cation/carnitine transporter (hOCTN2) via computational modeling and in vitro testing.
Diao L et al.
Pharmaceutical Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
Amat di San Filippo C et al.
Human Mutation, 2006
Disorders of carnitine transport and the carnitine cycle.
Longo N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.
Amat di San Filippo C et al.
The Journal of Biological Chemistry, 2004
Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.
Amat di San Filippo C et al.
The Journal of Biological Chemistry, 2003
Carnitine transport: pathophysiology and metabolism of known molecular defects.
Tein I
Journal of Inherited Metabolic Disease, 2003
Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.
Ohashi R et al.
The Journal of Pharmacology and Experimental Therapeutics, 2002
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
Lamhonwah AM et al.
American Journal of Medical Genetics, 2002
Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2.
Ohashi R et al.
Molecular Pharmacology, 2001
Metabolic cardiomyopathies.
Guertl B et al.
International Journal of Experimental Pathology, 2000
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
Wang Y et al.
Human Mutation, 2000
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
Seth P et al.
The Journal of Biological Chemistry, 1999
Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.
Wu X et al.
The Journal of Pharmacology and Experimental Therapeutics, 1999
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Tang NL et al.
Human Molecular Genetics, 1999
Phenotype and genotype variation in primary carnitine deficiency.
Wang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0