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Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.
bioRxiv
December 2024
Department of Pediatrics, University of Florida, Gainesville, FL.
Absence of functional acid-α-glucosidase (GAA) leads to early-onset Pompe disease with cardiorespiratory and neuromuscular failure. A novel Pompe rat model ( ) was used to test the hypothesis that neonatal gene therapy with adeno-associated virus serotype 9 (AAV9) restores cardiorespiratory neuromuscular function across the lifespan. Temporal vein administration of AAV9-DES-GAA or sham (saline) injection was done on post-natal day 1; rats were studied at 6-12 months old.
View Article and Find Full Text PDFBiochemical Mechanisms and Rehabilitation Strategies in Osteoporosis-Related Pain: A Systematic Review.
Clin Pract
December 2024
Department of Experimental Medicine (Di.Me.S), University of Salento, 73100 Lecce, Italy.
Article Synopsis
- Osteoporosis leads to significant bone mass loss, contributing to acute and chronic pain, necessitating a deeper understanding of its biochemical and neurophysiological mechanisms.
- A systematic review of studies from 2018 to 2024 revealed key findings on the miR-92a-3p/PTEN/AKT pathway and the importance of muscle-bone interactions, emphasizing mechanotransduction for bone health.
- Effective pain management strategies identified include physical therapies, cognitive behavioral therapy, and pharmacological options, highlighting the potential for integrated treatment approaches to improve pain relief and functional outcomes for patients.
Endophenotype 2.0: updated definitions and criteria for endophenotypes of psychiatric disorders, incorporating new technologies and findings.
Transl Psychiatry
December 2024
Departments of Psychiatry and Human Genetics, The University of Chicago, Chicago, IL, USA.
Recent genetic studies have linked numerous loci to psychiatric disorders. However, the biological pathways that connect these genetic associations to psychiatric disorders' specific pathophysiological processes are largely unclear. Endophenotypes, first defined over five decades ago, are heritable traits, independent of disease state that are associated with a disease, encompassing a broad range of neurophysiological, biochemical, endocrinological, neuroanatomical, cognitive, and neuropsychological characteristics.
View Article and Find Full Text PDFBiochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.
Elife
December 2024
School of Neurobiology, Biochemistry and Biophysics, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ~60% of the mitochondrial proteome. In this study, we characterized a disease-causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, and TIMM23). Strikingly, TIMM50 deficiency had no impact on the steady-state levels of most of its putative substrates, suggesting that even low levels of a functional TIM23 complex are sufficient to maintain the majority of TIM23 complex-dependent mitochondrial proteome.
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