Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Climatic determinants of antibiotic use in Southern Thailand: Retrospective longitudinal study during 2021 to 2023. [PDF]
Environ EpidemiolPannoi T, Sawangppon S, Pan WC.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Advanced Biology, Volume 9, Issue 3, March 2025.Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
Resistance of different antimicrobials to CRKP: a meta analysis. [PDF]
BMC Infect DisTao X, Wang L, Jin J.
europepmc +1 more source
Advanced Engineering Materials, EarlyView.This study investigates innovative thermoreversible hydrogels derived from S53P4 bioactive glass extracts to aid in the healing of infected diabetic foot wounds. These injectable gels, which gel at body temperature, release beneficial ions and remain stable over time.
Marian G. Vargas Guerrero +9 more
wiley +1 more source
Adherence to Antibiotic Treatments in Community Pharmacy: Analysis by Therapeutic Groups and Associated Factors. [PDF]
Farm ComunitariosZarauz Céspedes JM +1 more
europepmc +1 more source
Advanced Engineering Materials, EarlyView.Selenium was incorporated into a sol–gel‐derived bioactive glass to enable sustained therapeutic ion release. The selenium‐containing glass preserved bioactivity while selectively inducing cytotoxicity in osteosarcoma cells and maintaining osteoblastic viability.
Breno Rocha Barrioni +7 more
wiley +1 more source
Association between repeated antibiotic prescribing and seizure- and other neuropsychiatric disorders-related hospitalization among people living with dementia: a population-based cohort study. [PDF]
NPJ AgingChen K +11 more
europepmc +1 more source