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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 PDFCorrection: Glycogen Synthase Kinase-3 regulates IGFBP-1 gene transcription through the Thymine-rich Insulin Response Element.
BMC Mol Cell Biol
December 2024
Department of Pathology and Neurosciences, University of Dundee, Ninewells Medical School and Hospital, Dundee, DD1 9SY, UK.
Sex-specific maladaptive responses to acute stress upon in utero THC exposure are mediated by dopamine.
Pharmacol Res
December 2024
Dept. Biomedical Sciences, Div. Neuroscience and Clinical Pharmacology, University of Cagliari, Italy. Electronic address:
Article Synopsis
- * Research demonstrates that male rats exposed to THC during pregnancy exhibit altered dopamine activity and increased vulnerability to stress, affecting their sensorimotor functions.
- * The study found that the HPA axis's regulation of dopamine neurons differs by sex, influencing stress responses and sensorimotor gating, with potential for therapeutic interventions to correct these disruptions.
Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.
Disabil Rehabil
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Article Synopsis
- Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
- The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
- Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Nat Commun
November 2024
Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
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