Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts

Molecular Genetics and Metabolism

Volumn 89, Issue 4, 2006, Pages 392-394

  Almeida, L S ^a   Rosenberg, E H ^a   Martinez Munoz C ^a   Verhoeven, N M ^a   Vilarinho, L ^b   Jakobs, C ^a   Salomons, G S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

Cerebral creatine deficiency syndrome; GAMT; Mental retardation; Transfection

Indexed keywords

ENHANCED GREEN FLUORESCENT PROTEIN; GUANIDINOACETATE METHYLTRANSFERASE; HYBRID PROTEIN; PROTEIN METHYLTRANSFERASE; STABLE ISOTOPE; UNCLASSIFIED DRUG;

ARTICLE; ENZYME ACTIVITY; EXPRESSION VECTOR; FEMALE; FIBROBLAST; FUNCTIONAL ASSESSMENT; GAS CHROMATOGRAPHY; GENE MUTATION; GENE OVEREXPRESSION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HELA CELL; HUMAN; HUMAN CELL; ISOTOPE LABELING; MASS SPECTROMETRY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; WESTERN BLOTTING; WILD TYPE;

AMINO ACID METABOLISM, INBORN ERRORS; CREATINE; FIBROBLASTS; GUANIDINOACETATE N-METHYLTRANSFERASE; HELA CELLS; HUMANS; MUTATION; TRANSFECTION;

EID: 33750622166     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.06.006     Document Type: Article

References (11)

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