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
Accelerating Research on Brain Aging: Enabling Brain Imaging Data Sharing in the Open Science Landscape. [PDF]
Giehl K, van Eimeren T.
europepmc +1 more source
White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram +3 more
wiley +1 more source
Evaluation of comprehensive targeted intervention (TI) services among persons who inject drugs (PWIDs) in Himachal Pradesh. [PDF]
Kumar D, Raina S.
europepmc +1 more source
Endothelial Cell Proteins as Biomarkers in Susac Syndrome
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin +11 more
wiley +1 more source
Integrated Multidisciplinary and Digital Innovation in Polytrauma: Optimizing Whole-Process Emergency Models for Secondary Hospitals. [PDF]
Zhao J +6 more
europepmc +1 more source
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu +10 more
wiley +1 more source
The relationship between the social media advertising content characteristics and the advertising effectiveness of female users: a moderated mediation model based on basic psychological needs. [PDF]
Han Y.
europepmc +1 more source
Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella +5 more
wiley +1 more source

