Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts

Journal of Inherited Metabolic Disease

Volumn 29, Issue 2-3, 2006, Pages 345-346

  Rosenberg, Efraim H ^a   Muñoz, Cristina Martínez ^a   Degrauw, Ton J ^b   Jakobs, Cornelis ^a   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CREATINE TRANSPORTER; ENHANCED GREEN FLUORESCENT PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; FIBROBLAST; GAS CHROMATOGRAPHY; GENE CONSTRUCT; GENE OVEREXPRESSION; GENE THERAPY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MASS SPECTROMETRY; MOLECULAR CLONING; NONSENSE MUTATION; OPEN READING FRAME; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TREATMENT OUTCOME; WILD TYPE;

AMINO ACID TRANSPORT DISORDERS, INBORN; BRAIN DISEASES, METABOLIC, INBORN; CELLS, CULTURED; CREATINE; FIBROBLASTS; GUANIDINES; HUMANS; MUTATION; NERVE TISSUE PROTEINS; OPEN READING FRAMES; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; PROPIONIC ACIDS; TRANSFECTION;

EID: 33745067832     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0271-6     Document Type: Article

References (7)

1. deGrauw TJ, Salomons GS, Cecil KM, et al (2002) Congenital creatine transporter deficiency. Neuropediatrics 33(5): 232-238.
2. Kleefstra T, Rosenberg EH, Salomons GS, et al (2005) Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Clin Genet 68(4): 379-381.
3. Mancini GM, Catsman-Berrevoets CE, de Coo IF, et al (2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 132(3): 288-295.
4. Nash SR, Giros B, Kingsmore SF, et al (1994) Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Receptors Channels 2(2): 165-174.
5. Rosenberg EH, Almeida LS, Kleefstra T, et al (2004) High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75(1): 97-105.
6. Salomons GS, van Dooren SJ, Verhoeven NM, et al (2001) X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 68(6): 1497-1500.
7. Salomons GS, van Dooren SJ, Verhoeven NM, et al (2003) X-linked creatine transporter defect: An overview. J Inherit Metab Dis 26 (2-3): 309-318.