The Ubiquitin E3 Ligase UBE3A Regulates GRIPAP1 and PACSIN1 Proteins Linked to the Endocytic Recycling of AMPA Receptors.

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive and language impairments, seizures, reduced or fragmented sleep, motor ataxia, and a characteristic happy affect. AS arises due to the neuronal loss of UBE3A, an E3 ligase that regulates protein abundance through the addition of lysine 48 (K48)-linked polyubiquitin chains to proteins targeted for degradation by the ubiquitin proteasome system (UPS). Using a dual SMAD inhibition protocol to derive cortical neurons from human induced pluripotent stem cells, we examined deletion effects on the neuronal proteome by liquid chromatography tandem mass spectrometry (LC-MS/MS).

The cost-effectiveness of using vilobelimab with immunomodulators to treat severely ill mechanically ventilated patients with COVID-19: A subgroup analysis of the PANAMO study.

Purpose: The anti-C5a complement factor blocker vilobelimab (Gohibic) is authorized for emergency use by FDA for the treatment of hospitalized adults with COVID-19 when initiated within 48 hours of starting invasive mechanical ventilation or extracorporeal membrane oxygenation. In the PANAMO phase 3 trial of vilobelimab vs standard of care (SoC) (corticosteroids and antithrombotic agents), a post hoc analysis showed that prior and/or concomitant treatment with immunomodulators (tocilizumab or baricitinib) provided additional survival benefit with vilobelimab (n = 34) but not with SoC (n = 37). The point estimate for 28-day all-cause mortality for these groups was 6.

Assessing candidacy for fetal intervention in congenital lower urinary tract obstruction: A comprehensive review.

Congenital Lower Urinary Tract Obstruction (LUTO) is a rare but severe fetal condition, affecting approximately 2.2 per 10,000 live births. It is associated with complications such as oligohydramnios, pulmonary hypoplasia, and renal dysfunction.

Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.

Hereditary neurological diseases (HNDs), referring to monogenic forms of neurological diseases, can cause substantial debilitation in affected individuals. They particularly impact developing nations, where the burden of disease is reflected in a high number of disability-adjusted life years lost. In African populations, despite rich genetic diversity, high fertility rates and prevalent consanguinity, genetic research remains under-explored.