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ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFExploring the Effects of Sleep Deprivation on Physical Performance: An EEG Study in the Context of High-Intensity Endurance.
Sports Med Open
January 2025
Department of Physical Education, Tongji University, Shanghai, 200000, China.
Background: While the effects of sleep deprivation on cognitive function are well-documented, its impact on high-intensity endurance performance and underlying neural mechanisms remains underexplored, especially in the context of search and rescue operations where both physical and mental performance are essential. This study examines the neurophysiological basis of sleep deprivation on high-intensity endurance using electroencephalography (EEG). In this crossover study, twenty firefighters were subjected to both sleep deprivation (SD) and normal sleep conditions, with each participant performing endurance treadmill exercise the following morning after each condition.
View Article and Find Full Text PDFPainful diabetic neuropathy is associated with accelerated epigenetic aging.
Geroscience
January 2025
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
About one out of two diabetic patients develop diabetic neuropathy (DN), of these 20% experience neuropathic pain (NP) leading to individual, social, and health-economic burden. Risk factors for NP are largely unknown; however, premature aging was recently associated with several chronic pain disorders. DNA methylation-based biological age (DNAm) is associated with disease risk, morbidity, and mortality in different clinical settings.
View Article and Find Full Text PDFProjections from thalamic nucleus reuniens to hippocampal CA1 area participate in context fear extinction by affecting extinction-induced molecular remodeling of excitatory synapses.
Elife
January 2025
Laboratory of Molecular Basis of Behavior, Nencki Institute of Experimental Biology of Polish Academy of Sciences, Warsaw, Poland.
The ability to extinguish contextual fear in a changing environment is crucial for animal survival. Recent data support the role of the thalamic nucleus reuniens (RE) and its projections to the dorsal hippocampal CA1 area (RE→dCA1) in this process. However, it remains poorly understood how RE impacts dCA1 neurons during contextual fear extinction (CFE).
View Article and Find Full Text PDFTrends and Disparities in Parkinson's Disease Mortality in the United States with Predictions Using Machine Learning.
NeuroSci
January 2025
Department of Medicine, Creighton University, Omaha, NE 68178, USA.
Background: Parkinson's disease (PD) is a progressive neurodegenerative condition characterized by the degradation of dopaminergic pathways in the brain. As the population in the United States continues to age, it is essential to understand the trends in mortality related to PD. This analysis of PD's mortality characterizes temporal shifts, examines demographic and regional differences, and provides machine-learning predictions.
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