Lysosomal dysfunction is causally linked to neurodegeneration in many lysosomal storage disorders (LSDs) and is associated with various age-related neurodegenerative diseases , but there is limited understanding of the mechanisms by which altered lysosomal function leads to changes in gene expression that drive pathogenic cellular phenotypes. To investigate this question, we performed systematic imaging, transcriptomic, and epigenetic studies of major brain cell types in null (KO) mice, a preclinical mouse model for Sanfilippo syndrome (Mucopolysaccharidosis Type IIIA, MPS-IIIA) . MPS-IIIA is a neurodegenerative LSD caused by homozygous loss-of-function (LoF) mutations in which results in severe early-onset developmental, behavioral, and neurocognitive impairment .
View Article and Find Full Text PDF"Despite ART, we detected occasional microglia containing cell-associated HIV RNA and HIV DNA integrated into open regions of the host's genome (∼0.005%)" should be corrected to: "Despite ART, we detected occasional microglia containing cell-associated HIV RNA and HIV DNA integrated into open regions of the host's genome (∼0.5%).
View Article and Find Full Text PDFIntroduction: The aim of this study was to explore the association between symptoms of attention deficit hyperactivity disorder (ADHD) and oral health in a representative sample of the Spanish population aged 6-14 years. We also examined the contribution of several sociodemographic and behavioral determinants of children/adolescents and their family environment.
Methods: A cross-sectional study involving 3,402 subjects aged between 6 and 14 years from the Spanish National Health Survey.