Down Syndrome

New Down syndrome research has been reported by scientists at Hokkaido University

Published in Gene Therapy Weekly, March 11th, 2010

"The serine threonine kinase Akt is a core survival factor that underlies a variety of human diseases. Although regulatory phosphorylation and dephosphorylation have been well documented, the other posttranslational mechanisms that modulate AM activity remain unclear," investigators in Sapporo, Japan report.

"We show here that tetratricopeptide repeat domain 3 (TTC3) is an E3 ligase that interacts with Akt. TTC3 contains a canonical RING finger motif, a pair of tetratricopeptide motifs, a putative Akt phosphorylation site, and nuclear localization signals, and is encoded by a gene within the Down syndrome (DS) critical region on chromosome 21. TTC3 is an Akt-specific E3...

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Source: Gene Therapy Weekly (2010-03-11)

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