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
Recent advances in the biosynthesis and production optimization of gentamicin: A critical review. [PDF]
Xu F +9 more
europepmc +1 more source
Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit +10 more
wiley +1 more source
Eco-Friendly Biocomposites from Chestnut Waste: Production, Optimization, Characterization, and Application. [PDF]
Silva SB +9 more
europepmc +1 more source
Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah +4 more
wiley +1 more source
Production, optimization and characterization of esterase isolated from a new endophytic Trichoderma afroharzianum strain AUMC 16,433 and its applications in dye decolorization. [PDF]
Mahmoud YA +4 more
europepmc +1 more source
Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali +11 more
wiley +1 more source
Development of an efficient expression system for human chaperone BiP in Pichia pastoris: production optimization and functional validation. [PDF]
Žitkus E +4 more
europepmc +1 more source
A. Adesulu-Dahunsi +5 more
semanticscholar +1 more source

