Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.
Edinburgh, United Kingdom. In J Neurosci, Dec 2015
Super-resolution microscopy reveals that Syngap(+/-) and Fmr1(-/y) mice show nanoscale alterations in dendritic spine morphology that predict an increase in biochemical compartmentalization. Finally, increased basal protein synthesis is rescued by negative regulators of the mGlu subtype 5 receptor and the Ras-ERK1/2 pathway, indicating that therapeutic interventions for fragile X syndrome may benefit patients with SYNGAP1 haploinsufficiency.
Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?
Roma, Italy. In Brain Dev, 2014
The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5).
SynGAP isoforms exert opposing effects on synaptic strength.
Edinburgh, United Kingdom. In Nat Commun, 2011
Overexpression of SynGAP alpha1 versus alpha2 C-termini-containing proteins in hippocampal neurons has opposing effects on synaptic strength, decreasing and increasing miniature excitatory synaptic currents amplitude/frequency, respectively.
De novo autosomal dominant mutation in SYNGAP1.
Chicago, United States. In Autism Res, 2011
SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning.