Macarena Gomez de Salazar

Aarhus University | AU · Department of Molecular Biology and Genetics

Down syndrome (DS), caused by human chromosome 21 trisomy, is one of the most common genetic causes of intellectual disabilities. Moreover, approximately 60-80% of individuals with Down Syndrome develop early onset Alzheimer s disease symptoms and neuropathology characterized by the deposition of senile plaques and neurofibrillary tangles. Spine lo...

Autosomal dominant mutations in GRIN2B are associated with severe encephalopathy, but little is known about the pathophysiological outcomes and any potential therapeutic interventions. Genetic studies have described the association between de novo mutations of genes encoding the subunits of the N-methyl-D-aspartate receptor (NMDAR) and severe neuro...

Autosomal dominant mutations in GRIN2B are associated with severe encephalopathy, but little is known about the pathophysiological outcomes and any potential therapeutic interventions. Genetic studies have described the association between de novo mutations of genes encoding the subunits of the N -methyl- d -aspartate receptor (NMDAR) and severe ne...

Down syndrome (DS), the main genetic cause of intellectual disability, is associated with an imbalance of excitatory/inhibitory neurotransmitter systems. The phenotypic assessment and pharmacotherapy interventions in DS murine models strongly pointed out glutamatergic neurotransmission alterations (specially affecting ionotropic glutamate receptors...

Background N-Methyl D-Aspartate receptors (NMDARs) play pivotal roles in synaptic development, plasticity, neural survival, and cognition. Despite recent reports describing the genetic association between de novo mutations of NMDAR subunits and severe psychiatric diseases, little is known about their pathogenic mechanisms and potential therapeutic...