Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 3, 2011, Pages 312-320

  Filippo, Cristina Amat di San ^a   Ardon, Orly ^b   Longo, Nicola ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

Carnitine transport; Fatty acid oxidation; Glycosylation; OCTN2; Organic cation transporter; Primary carnitine deficiency; SLC22A5

Indexed keywords

ASPARAGINE; CARNITINE; GLUTAMINE; OCTN2 PROTEIN; ORGANIC CATION TRANSPORTER; TUNICAMYCIN; UNCLASSIFIED DRUG;

ARTICLE; CARNITINE DEFICIENCY; CELL MEMBRANE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CYTOPLASM; GENE MUTATION; HUMAN; HUMAN CELL; KINETICS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING; TURNOVER TIME; WESTERN BLOTTING;

AMINO ACID SUBSTITUTION; ANIMALS; BIOLOGICAL TRANSPORT; BLOTTING, WESTERN; CARDIOMYOPATHIES; CARNITINE; CELL MEMBRANE; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; GLYCOSYLATION; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; KINETICS; MALE; MUSCLE WEAKNESS; MUTAGENESIS, SITE-DIRECTED; MUTATION; ORGANIC CATION TRANSPORT PROTEINS;

EID: 78650580445     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2010.11.007     Document Type: Article

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