Publications by authors named "A L Garcia-Garcia"
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFNeurodegenerative diseases, including Parkinson's Disease (PD), are a significant global health challenge with no effective therapies to counteract neurodegeneration. Genetic and environmental factors lead to mitochondrial dysfunction and increased reactive oxygen species (ROS), resulting in oxidative stress. This stress reduces levels of Peroxiredoxin 3 (PRDX3), a key protein for maintaining ROS balance at the mitochondrial level, increasing the substantia nigra's susceptibility to damage.
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- Exposure to high-energy diets during fetal development can increase the risk of type 2 diabetes in offspring due to glucose imbalance linked to specific lipids.
- Research focuses on C24:0 ceramide, a lipid found in increased amounts in offspring of rats on high-energy diets and obese-T2DM individuals, which disrupts glucose balance and triggers metabolic issues.
- C24:0 ceramide impairs energy processing in fat and liver cells by promoting harmful conditions in mitochondria and stressing the endoplasmic reticulum, contributing to overall glucose imbalance and fat accumulation.