Pharmacological rescue of carnitine transport in primary carnitine deficiency

Human Mutation

Volumn 27, Issue 6, 2006, Pages 513-523

  Amat Di San Filippo, Cristina ^a   Pasquali, Marzia ^a   Longo, Nicola ^a  

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

Author keywords

Cardiomyopathy; Carnitine deficiency; Fatty acid oxidation; Membrane processing; OCTN2; SLC22A5

Indexed keywords

ARYLBUTYRIC ACID DERIVATIVE; CARNITINE; CURCUMIN; GREEN FLUORESCENT PROTEIN; ION CHANNEL; PROTEIN OCTN2; QUINIDINE; UNCLASSIFIED DRUG; VERAPAMIL;

ADULT; ANIMAL CELL; ARTICLE; CARNITINE DEFICIENCY; CELL MEMBRANE; CHILD; CHO CELL; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CYSTIC FIBROSIS; CYTOPLASM; ENDOPLASMIC RETICULUM; FATTY ACID OXIDATION; FEMALE; GENE; HUMAN; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SLC22A5 GENE;

ADULT; ANIMALS; BIOLOGICAL TRANSPORT; CARNITINE; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CRICETULUS; CURCUMIN; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENDOPLASMIC RETICULUM; ENZYME INHIBITORS; FEMALE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; ORGANIC CATION TRANSPORT PROTEINS; PHENYLBUTYRATES; QUINIDINE; VERAPAMIL; VITAMIN B DEFICIENCY;

EID: 33646510996     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20314     Document Type: Article

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