Results 71 to 80 of about 1,896 (150)
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity [PDF]
Chemico-Biological Interactions, 2011 Mammalian aldehyde dehydrogenase 7A1 (ALDH7A1) is homologous to plant ALDH7B1 which protects against various forms of stress such as increased salinity, dehydration and treatment with oxidants or pesticides. Deleterious mutations in human ALDH7A1 are responsible for pyridoxine-dependent and folinic acid-responsive seizures. In previous studies, we have
BROCKER C +3 more
openaire +3 more sources
Frontiers in Psychiatry, 2019 Pyridoxine (vitamin B6)-responsive epilepsies are severe forms of epilepsy that manifest as seizures immediately after birth, sometimes in utero, sometimes months, or years after birth.
Bjørnar Hassel +3 more
doaj +1 more source
The Journal of Physiology, Volume 604, Issue 20, Page 8636-8661, 15 October 2026.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
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange +4 more
wiley +1 more source
Якутский медицинский журналMany environmental and genetic factors are involved in asthma development, among which an important role in the disease formation and response to antihistamine therapy belongs to genes involved in the histamine metabolism (HRH1, HRH2, HRH3, HRH4, HDC ...
O. N. Savelieva +7 more
doaj +1 more source
Nature Communications, 2019 Intracellular vesicle transport can be regulated by Brefeldin‐A ADP‐Ribosylated Substrate (BARS) during vesicle fission. Here, the authors show that NADH generated by aldehyde dehydrogenase 7A1 (ALDH7A1) inhibits intracellular transport by targeting BARS
Jia-Shu Yang +10 more
doaj +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
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
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