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
EFNA5 as an Oocyte-Derived Factor Enhances Developmental Competence by Modulating Oxidative Stress, Inflammation, and Apoptosis During In Vitro Maturation. [PDF]
Liu X +8 more
europepmc +1 more source
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Effects of physiological oxygen tension on human cumulus-oocyte-complex metabolism during in vitro maturation: an exploratory study. [PDF]
Anckaert E +9 more
europepmc +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
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
Transcriptomic Profiling Reveals Urokinase-Type Plasminogen Activator-Mediated Regulation of Metabolic Competence and Cumulus Expansion During Mouse Oocyte In Vitro Maturation. [PDF]
Yeh LY +6 more
europepmc +1 more source
Cumulative live birth after unstimulated in vitro maturation versus conventional in vitro fertilization (IVF) in women with polycystic ovary syndrome: a 36-month retrospective matched cohort study. [PDF]
Guo W +11 more
europepmc +1 more source
Does ovarian morphology type affect the reproductive outcomes of in-vitro maturation cycles in polycystic ovary syndrome? [PDF]
Hochberg A +5 more
europepmc +1 more source
Rescue in vitro maturation of germinal vesicle oocytes after ovarian stimulation: the importance of the culture media. [PDF]
Soler N +8 more
europepmc +1 more source

