SETBP1 deficiency syndrome as an AKT modifer in human neurons

MDBRSETBP1
Written By Million Dollar Bike Ride

Awardee: Carl Ernst

Institution: McGill Uniersity (Douglas Hospital Research Institute)

Award Amount: $67,943

Million Dollar Bike Ride
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Tissue-specific and temporal reinstatement of Tcf4 to treat Pitt-Hopkins Syndrome
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Dimethylspermine (Me2Spm) as a novel treatment approach to restore normal spermidine/spermine ratios in Snyder-Robinson Syndrome (SRS) models