Results 61 to 70 of about 2,516,365 (158)
The Journal of Physiology, EarlyView.Abstract figure legend Skeletal muscle wasting conditions are characterized by muscle fibre atrophy, mitochondrial respiratory dysfunction, mitochondrial depletion and fragmentation of acetylcholine receptor (AChR) cluster at the neuromuscular junction.
Maya Semel +10 more
wiley +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires +15 more
wiley +1 more source
Epilepsia, Volume 67, Issue 9, Page 4536-4550, September 2026.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source
GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
, 2021 GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438) +7 more
core +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Biomedicines, 2020 Enzymes are key proteins performing the basic functional activities in cells. In humans, enzymes can be also responsible for diseases, and the molecular mechanisms underlying the genotype to phenotype relationship are under investigation for diagnosis ...
Giulia Babbi +4 more
doaj +1 more source
Epilepsia Open, 2023 Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan +23 more
doaj +1 more source
Wound Repair and Regeneration, Volume 34, Issue 4, July/August 2026.ABSTRACT Diabetic foot ulcers remain a major clinical challenge as diabetes prevalence rises, emphasising the need for improved therapeutics and relevant preclinical models. Common rodent wound‐healing models poorly recapitulate human skin anatomy and repair.
Joshua T. McCune +5 more
wiley +1 more source
TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
, 2021 TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438) +7 more
core +1 more source
Dynamics of the Mammalian Placental Metabolome in Placentogenesis and Embryonic Development
Advanced Science, Volume 13, Issue 19, 2 April 2026.This study identifies three metabolic stages (E8.5, E9.5–10.5, E11.5–14.5) and two transition periods (E8.5–9.5, E10.5–11.5) in mouse placental development. NAD(H) emerges as a key dynamic metabolite that enhances embryonic growth through accelerated segmentation and increased proliferation of mouse embryonic stem cell (mESC)‐induced presomitic ...
Gang Chen +11 more
wiley +1 more source