Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Aging and injury drive neuronal senescence in the dorsal root ganglia.

Aging negatively impacts central nervous system function; however, the cellular impact of aging in the peripheral nervous system remains poorly understood. Aged individuals are more likely to experience increased pain and slower recovery after trauma. Such injury can damage vulnerable peripheral axons of dorsal root ganglion (DRG) neurons resulting in somatosensory dysfunction.

Usefulness of immature platelet fraction measurement in predicting hematologic recovery in patients with acute leukemias undergoing high-intensity chemotherapy and stem cell transplantation.

Background And Objectives: The immature platelet fraction (IPF) count is a parameter that quantifies young and reticulated platelets in peripheral blood, which reflects platelet production in the bone marrow. It has been used as a predictive model for bone marrow recovery in patients with acute leukemia after high-intensity chemotherapy and/or stem cell transplantation. This study aimed to evaluate IPF as a predictor of hematologic recovery in these patients.

Pellino 3 E3 ligase promotes starvation-induced autophagy to prevent hepatic steatosis.

Nutrient deprivation is a major trigger of autophagy, a conserved quality control and recycling process essential for cellular and tissue homeostasis. In a high-content image-based screen of the human ubiquitome, we here identify the E3 ligase Pellino 3 (PELI3) as a crucial regulator of starvation-induced autophagy. Mechanistically, PELI3 localizes to autophagic membranes, where it interacts with the ATG8 proteins through an LC3-interacting region (LIR).