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http://dx.doi.org/10.1016/j.jacadv.2024.100986 | DOI Listing |
JCI Insight
September 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Patients with Dravet syndrome (DS) present with severe, spontaneous seizures and ataxia. While most patients with DS have variants in the sodium channel Nav1.1 α subunit gene, SCN1A, variants in the sodium channel β1 subunit gene, SCN1B, are also linked to DS.
View Article and Find Full Text PDFJ Neurochem
September 2025
Center for Translational Research in Neurodegenerative Disease, University of Florida, Gainesville, Florida, USA.
The two most prominent post-translational modifications of pathologic tau are Ser/Thr/Tyr phosphorylation and Lys acetylation. Whether acetylation impacts the susceptibility of tau to templated seeding in diseases like Alzheimer's disease (AD) and Progressive Supranuclear Palsy (PSP) is largely uncharacterized. Towards this, we examined how acetylation mimicking or nullifying mutations on five sites of tau (K311, K353, K369, K370, K375), located within the tau filament core, influenced the susceptibility of P301L (PL) tau to seeds from AD (AD-tau) or PSP (PSP-tau) brain donors in HEK293T cells.
View Article and Find Full Text PDFBackground & Aims A hallmark of metabolic dysfunction-associated steatotic liver disease (MASLD) is a decline in the ability of hepatocyte mitochondria to adapt to excess lipid. This leads to the production of reactive oxygen species (ROS) and the instigation of a vicious cycle of further mitochondrial damage and cellular dysfunction that promotes disease progression. In this study, we investigated whether induced pluripotent stem cells (iPSCs) from MASLD patients exhibit features of mitochondrial dysfunction when differentiated to hepatocyte-like cells (iPSC-Heps).
View Article and Find Full Text PDFCureus
July 2025
Internal Medicine, National Center for Geriatrics and Gerontology, Obu, JPN.
Myotonic dystrophy type 1 (DM1) is a multisystem autosomal dominant disorder primarily characterized by myotonia and distal muscle weakness. Central nervous system (CNS) involvement, including cognitive, executive, and emotional dysfunctions, is increasingly being recognized; however, language impairment as an initial presentation is rare. A 50-year-old right-handed woman with a six-month history of progressive word-finding difficulty, vague speech, and social withdrawal was referred for evaluation.
View Article and Find Full Text PDFViruses
August 2025
Department of Veterinary Medicine, Rakuno Gakuen University, Ebetsu 069-8501, Japan.
Phage therapy, long overshadowed by antibiotics in Western medicine, has a well-established history in some Eastern European countries and is now being revitalized as a promising strategy against antimicrobial resistance (AMR). This resurgence of phage therapy is driven by the urgent need for innovative countermeasures to AMR, which will cause an estimated 10 million deaths annually by 2050. However, the emergence of phage-resistant variants presents challenges similar to AMR, thus necessitating a deeper understanding of phage resistance mechanisms and control strategies.
View Article and Find Full Text PDF