Stem-Cell Research
GAMT deficiency causes biochemical adaptations in brain and skeletal muscle
Published in Gene Therapy Weekly, June 24th, 2004
"We generated a knockout mouse model for guanidinoacetate N-methyltransferase (GAMT) deficiency (MIM 601240), the first discovered human creatine deficiency syndrome, by gene targeting in embryonic stem cells. Disruption of the open reading frame of the murine GAMT gene in the first exon resulted in the elimination of 210 of the 237 amino acids present in mGAMT. The creation of an mGAMT null allele was verified at the genetic, RNA and protein levels," researchers in Germany report.
"GAMT knockout mice have markedly increased guanidinoacetate (GAA) and reduced creatine and...
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Source: Gene Therapy Weekly (2004-06-24)
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