Amy J. Ramsey

The paper characterizes a Grin1Q536R/+ mouse model carrying a GRIN1 variant, showing age- and sex-dependent behavioral and physiological changes linked to GRIN1-NDD.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper shows that a GluN1 variant causes NMDAR dysfunction in mice, leading to seizures, and demonstrates that boosting negative feedback can treat them.

This study creates a mouse model of DTDS with the A313V DAT variant and identifies two potential treatments, [a]MPT and AMPH, that reduce hyperactivity.

This study shows that the temporal pattern of prior LTP induction affects the molecular pathways involved in depotentiation, with non-ionotropic NMDAR signaling required for compressed LTP depotentiation.

This study shows that combining haloperidol with UNC9994 reduces schizophrenia-like symptoms in NMDAR-deficient mice.

This study investigates the effects of the GRIN1 Y647S variant in mice, showing that β-hydroxybutyrate reduces convulsions associated with the variant.

This study shows that deficits in extrasynaptic NMDARs caused by Grin1 disruption can be rescued in adult mice through genetic intervention.

This study shows that restoring WAVE-1 in GluN1 knockdown mice rescues striatal spine density and improves maze exploration behavior.

The paper identifies PPAR agonists as potential treatments for schizophrenia by analyzing bioenergetic changes in the DLPFC using bioinformatics and experimental validation.

This study shows that restoring NMDAR function in adult mice with congenital NMDAR deficiency improves cognitive behaviors, suggesting potential for adult treatment of related disorders.

This study shows that increased tyrosine hydroxylase activity in mice leads to higher dopamine levels, amphetamine response, and oxidative stress markers, suggesting a potential mechanism for neurodegeneration in Parkinson's disease.