GFP–Human High-Affinity Carnitine Transporter OCTN2 Protein: Subcellular Localization and Functional Restoration of Carnitine Uptake in Mutant Cell Lines with the Carnitine Transporter Defect

This publication has 20 references indexed in Scilit:

• Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
  Nature Genetics, 1999
• Carnitine Uptake Defect: Frameshift Mutations in the Human Plasmalemmal Carnitine Transporter Gene
  Biochemical and Biophysical Research Communications, 1998
• Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2
  Journal of Biological Chemistry, 1998
• cDNA Sequence, Transport Function, and Genomic Organization of Human OCTN2, a New Member of the Organic Cation Transporter Family
  Biochemical and Biophysical Research Communications, 1998
• Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency
  Pediatric Research, 1997
• The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1996
• Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
  Annals of Neurology, 1991
• Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy
  Pediatric Research, 1990
• Transport of carnitine into cells in hereditary carnitine deficiency
  Journal of Inherited Metabolic Disease, 1989
• Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts
  New England Journal of Medicine, 1988