A y+ LAT-1 mutant protein interferes with y+ LAT-2 activity: Implications for the molecular pathogenesis of lysinuric protein intolerance

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 628-634

  Sperandeo, Maria P ^a,b   Paladino, Simona ^a   Maiuri, Luigi ^a   Maroupulos, George D ^c   Zurzolo, Chiara ^a   Taglialatela, Maurizio ^a   Andria, Generoso ^a   Sebastio, Gianfranco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b DULBECCO TELETHON INSTITUTE   (Italy)

^c Pan and Agl Kyriakou Children's Hospital   (Greece)

Author keywords

Amino acid transport; Lysinuric protein intolerance; Mutation; Xenopus laevis oocytes; y+ LAT 1; y+ LAT 2

Indexed keywords

AMINO ACID TRANSPORTER; LYSINE; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN 4F2HC; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; Y POSITIVE LAT 1 PROTEIN; Y POSITIVE LAT 2 PROTEIN;

AMINO ACID TRANSPORT; AMINOACIDURIA; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; E36DEL GENE; F152L GENE; GENE; GENE MUTATION; HUMAN; LYMPHOBLAST; LYSINURIC PROTEIN INTOLERANCE; MALE; MAMMAL CELL; NONHUMAN; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTOLERANCE; SLC7A6 GENE; SLC7A7 GENE; XENOPUS LAEVIS;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; ANTIGENS, CD98 LIGHT CHAINS; ARGININE; CELL LINE; CHILD, PRESCHOOL; DOGS; HUMANS; LYSINE; MALE; MUTATION; OOCYTES; XENOPUS LAEVIS;

MAMMALIA; XENOPUS LAEVIS;

EID: 18844382599     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201376     Document Type: Article

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