Results 231 to 240 of about 7,416,707 (356)
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
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
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +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
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur +5 more
wiley +1 more source
The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi +3 more
wiley +1 more source
Going with the Flow: Water Flux and Cell Shape during Cytokinesis. [PDF]
Li Y +6 more
europepmc +1 more source
This study presents a reversible temperature sensor with high switching ratio, ∼103. The device is fabricated using PET‐ITO and carbon nanotube dispersions in alkane. Considering its application in cold chain logistics, a proof‐of‐concept with LED is showcased. Thus, a temperature drop below the threshold temperature (crystallization temperature of the
Sunil Kumar Behera +8 more
wiley +1 more source

