Publications by authors named "Mari Carmen Pelaez"
Article Synopsis
- Protein misfolding and mislocalization are key issues in both familial and sporadic ALS, making the maintenance of protein balance through heat shock proteins (HSPs) an important treatment strategy, but neurons have a high threshold for this response.
- In experiments with mouse models of ALS, the drugs arimoclomol and RGFP963 showed mixed results: they didn't increase HSP expression in FUS mice but helped improve cognitive function and dendritic spine density.
- In SOD1 mice, some HSPs were upregulated in muscle but not in spinal cord, with drug treatments enhancing muscle performance without promoting HSP expression, suggesting alternate
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative diseases that belong to a common disease spectrum based on overlapping clinical, pathological and genetic evidence. Early pathological changes to the morphology and synapses of affected neuron populations in ALS/FTD suggest a common underlying mechanism of disease that requires further investigation. Fused in sarcoma (FUS) is a DNA/RNA-binding protein with known genetic and pathological links to ALS/FTD.
View Article and Find Full Text PDFGenetic mutations in nitrogen permease regulator-like 2 (NPRL2) are associated with a wide spectrum of familial focal epilepsies, autism, and sudden unexpected death of epileptics (SUDEP), but the mechanisms by which NPRL2 contributes to these effects are not well known. NPRL2 is a requisite subunit of the GAP activity toward Rags 1 (GATOR1) complex, which functions as a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) kinase when intracellular amino acids are low. Here, we show that loss of NPRL2 expression in mouse excitatory glutamatergic neurons causes seizures before death, consistent with SUDEP in humans with epilepsy.
View Article and Find Full Text PDFBackground: The medial prefrontal cortex (mPFC) is part of a complex circuit controlling stress responses by sending projections to different limbic structures including the nucleus accumbens (NAc) and ventral tegmental area (VTA). However, the impact of chronic stress on NAc- and VTA-projecting mPFC neurons is still unknown, and the distinct contribution of these pathways to stress responses in males and females is unclear.
Methods: Behavioral stress responses were induced by 21 days of chronic variable stress in male and female C57BL/6NCrl mice.