Results 171 to 180 of about 312,553 (300)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

Histone Lactylation as an Epigenetic Regulator in Alzheimer’s Disease Pathophysiology: A Narrative Review

open access: yesJournal of Inflammation Research
Jingkai Tang,1,* Yiwei Zhang,1,* Yibing Wang,1,* Yanxin Fu,1 Jingman Qi,1 Aomeng Xiang,1 Ruoxuan Zhao,1 Ge Tan,1 Huili Deng,2 Xuchang Zhou,2 Liang Wu3 1Department of Sport Rehabilitation, Tianjin University of Sport, Tianjin ...
Tang J   +10 more
doaj  

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie   +8 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
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

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