Publications by authors named "A E Vaudano"
Internal feedback circuits among MEX-5, MEX-6, and PLK-1 maintain faithful patterning in the embryo.
Proc Natl Acad Sci U S A
December 2024
Proteins become asymmetrically distributed in the one-cell embryo thanks to reaction-diffusion mechanisms that are often entangled in complex feedback loops. Cortical polarity drives the enrichment of the RNA-binding proteins MEX-5 and MEX-6 in the anterior cytoplasm through concentration gradients. MEX-5 and MEX-6 promote the patterning of other cytoplasmic factors, including that of the anteriorly enriched mitotic polo-like kinase PLK-1, but also contribute to proper cortical polarity.
View Article and Find Full Text PDFArticle Synopsis
- Study examines the risk of sudden unexpected death in epilepsy patients related to ictal central apnea (ICA) occurrences and features.
- Data from 108 patients with focal epilepsy were reviewed, who underwent extensive monitoring including video-EEG and genetic testing; 5 patients had pathogenic mutations detected.
- Results indicate a significant correlation between ICA and genetic variants, highlighting the importance of respiratory monitoring and genetic evaluation in focal epilepsy cases with unknown causes.
Considering the growing age of the world population, the incidence of epilepsy in older adults is expected to increase significantly. It has been suggested that late-onset temporal lobe epilepsy (LO-TLE) may be neurodegenerative in origin and overlap with Alzheimer's disease (AD). Herein, we aimed to characterize the pattern of cortical atrophy and CSF biomarkers of AD (total and phosphorylated tau and amyloid-β) in a selected population of LO-TLE of unknown origin.
View Article and Find Full Text PDFObjective: Drowsiness has been implicated in the modulation of centro-temporal spikes (CTS) in Self-limited epilepsy with Centro-Temporal Spikes (SeLECTS). Here, we explore this relationship and whether fluctuations in wakefulness influence the brain networks involved in CTS generation.
Methods: Functional MRI (fMRI) and electroencephalography (EEG) was simultaneously acquired in 25 SeLECTS.
Background: We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production and reduces porphyric attacks' recurrence.
Case Report: A 12-year-old male patient with refractory acute intermittent porphyria and severe porphyric neuropathy was followed prospectively for 12 months after givosiran initiation (subcutaneous, 2.5 mg/kg monthly).