The Son of Sevenless (SOS) protein family includes two highly homologous proteins, SOS1 and SOS2, that act as guanine nucleotide exchange factors (GEFs) for RAS proteins. They catalyze the GDP-to-GTP exchange, resulting in an increase of the active GTP-bound form of RAS. Despite highly similar structures and expression patterns, SOS1 is generally accepted as the dominant RAS GEF for downstream signaling in pathological states.
View Article and Find Full Text PDFBackground: With the approval of disease-modifying treatments for 5q-spinal muscular atrophy (SMA), there is an increasing need for biomarkers for disease course and therapeutic response monitoring. Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability.
View Article and Find Full Text PDFGiven the heterogeneous nature of attention-deficit/hyperactivity disorder (ADHD) and the absence of established biomarkers, accurate diagnosis and effective treatment remain a challenge in clinical practice. This study investigates the predictive utility of multimodal data, including eye tracking, EEG, actigraphy, and behavioral indices, in differentiating adults with ADHD from healthy individuals. Using a support vector machine model, we analyzed independent training (n = 50) and test (n = 36) samples from two clinically controlled studies.
View Article and Find Full Text PDFBackground: Fasudil is a small molecule inhibitor of Rho-associated kinase (ROCK) and is approved for the treatment of subarachnoid haemorrhage. In preclinical studies, fasudil has been shown to attenuate neurodegeneration, modulate neuroinflammation, and foster axonal regeneration. We aimed to investigate the safety, tolerability, and efficacy of fasudil in patients with amyotrophic lateral sclerosis.
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