Luigi Puglielli, MD, PhD – Slide of the Week
The endoplasmic reticulum acetylation machinery has emerged as a new branch of the larger endoplasmic reticulum quality control system.
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
The endoplasmic reticulum acetylation machinery has emerged as a new branch of the larger endoplasmic reticulum quality control system.
Many individuals with intellectual and developmental disabilities present complex behavioral and mental health challenges that can take the form of aggression, self-injurious behavior, or property destruction.
Neural stem cells (NSCs) must exit quiescence to produce neurons; however, our understanding of this process remains constrained by the technical limitations of current technologies.
Outer retinal degenerative diseases (RDDs) and injuries leading to photoreceptor (PR) loss are prevailing causes of blindness worldwide.
Individuals with Down syndrome (DS) have a higher incidence of hearing loss (HL) compared with their peers without developmental disabilities.
Children born preterm are at an elevated risk of language delays compared to children born full-term.
Re-expression of Halo-TSC2 for 1 DIV in TSC2-/- cortical neurons reduces hyper-phosphorylated S6 and increased neurite length
Listeners had increased levels of fatigue when they heard dysarthric speech relative to non-dysarthric speech.
Mean physical and behavioral depressive symptoms on the Reiss Screen of Maladaptive Behavior (RSMB) across four data collection cycles in sample of 262 adults with Down syndrome. Blue line is for those with low PET amyloid and green line for those with elevated PET amyloid.
Title: Congruent gene expression in Alexander disease model mice and human Alzheimer’s disease Legend: (A) A Rank-Rank Hypergeometric Overlap (RRHO) heatmap comparing a composite gene expression portrait of human Alzheimer’s disease (AD, X axis) with transcriptomic changes in hippocampus from Alexander disease model mice (GFAP mutation, Y axis) indicates high matching of up- and downregulated …