Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
The dual pathogenic role of IL-24 in sepsis: Coupling bacterial dissemination with inflammatory amplification as a therapeutic target. [PDF]
Lu J +5 more
europepmc +1 more source
Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl +6 more
wiley +1 more source
System L Amino Acid Transporter LAT1 is required for Mouse Intestinal Epithelial Homeostasis. [PDF]
Bao L, Peng Z, Shi B, Shi YB.
europepmc +1 more source
Associations of Sleep and Shift Work With Osteoarthritis Risk
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik +5 more
wiley +1 more source
LPLAT7 reutilizes unsaturated 1-lysophospholipids formed during lysosomal phospholipid degradation. [PDF]
Xu Y +5 more
europepmc +1 more source
Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham +81 more
wiley +1 more source
Cathepsin A deficiency exacerbates LPS-induced inflammatory liver injury and apoptosis. [PDF]
Chae HY +11 more
europepmc +1 more source
Objective This study aimed to characterize cannabis product choices (cannabinoid content and formulation) among patients with rheumatologic conditions and their associations with patient factors, patient‐reported perceived side effects, and positive impacts.
Susan Zhang +10 more
wiley +1 more source
G Protein-Coupled Receptor 17 (Gpr17) Enhances Leptin and Insulin Sensitivity in Lean and Obese Mouse Models. [PDF]
Sun X +8 more
europepmc +1 more source

