Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in .

Lipid metabolism plays a critical role in maintaining cellular integrity, especially within the nervous system, where lipids support neuronal structure, function, and synaptic plasticity. However, this essential metabolic pathway is highly susceptible to oxidative stress, which can lead to lipid peroxidation, a damaging process induced by reactive oxygen species. Lipid peroxidation generates by-products that disrupt many cellular functions, with a strong impact on proteostasis.

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Personalized μ-transcranial alternating current stimulation improves online brain-computer interface control.

Objective: A motor imagery (MI)-based brain-computer interface (BCI) enables users to engage with external environments by capturing and decoding electroencephalography (EEG) signals associated with the imagined movement of specific limbs. Despite significant advancements in BCI technologies over the past 40 years, a notable challenge remains: many users lack BCI proficiency, unable to produce sufficiently distinct and reliable MI brain patterns, hence leading to low classification rates in their BCIs. The objective of this study is to enhance the online performance of MI-BCIs in a personalized, biomarker-driven approach using transcranial alternating current stimulation (tACS).