Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

Journal of Inherited Metabolic Disease

Volumn 36, Issue 1, 2013, Pages 103-112

  Valayannopoulos, Vassili ^a,b   Bakouh, Naziha ^c   Mazzuca, Michel ^a   Nonnenmacher, Luc ^b   Hubert, Laurence ^a   Makaci, Fatna Léa ^c   Chabli, Allel ^b   Salomons, Gajja S ^d   Mellot Draznieks, Caroline ^f,g   Brulé, Emilie ^e,h   De Lonlay, Pascale ^a,b   Toulhoat, Hervé ^f   Munnich, Arnold ^a,b   Planelles, Gabrielle ^c   De Keyzer, Yves ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSERM   (France)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e CNRS   (France)

^f IFP ENERGIES NOUVELLES   (France)

^g CEA GRENOBLE   (France)

^h SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSPORTER; ARGININE DERIVATIVE; CREATINE; CREATINE PHOSPHATE; GLYCINE DERIVATIVE; GUANIDINOPROPIONIC ACID; PROTEIN SLC6A8; UNCLASSIFIED DRUG;

AMINO ACID DEFICIENCY; AMINO ACID TRANSPORT; ANIMAL CELL; ARTICLE; BRAIN FUNCTION; CASE REPORT; CELL MEMBRANE; CELLULAR DISTRIBUTION; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROPHYSIOLOGY; ENZYME INHIBITION; FIBROBLAST; GENE; GENE ACTIVITY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; NONHUMAN; OOCYTE; PRESCHOOL CHILD; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; SLC6A8 GENE; XENOPUS LAEVIS;

ANIMALS; CELL MEMBRANE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CREATINE; ELECTROPHYSIOLOGICAL PHENOMENA; FIBROBLASTS; GENOTYPE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; NERVE TISSUE PROTEINS; OOCYTES; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; XENOPUS LAEVIS;

EID: 84872602936     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9495-9     Document Type: Article

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