PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy.

Glucose-insulin relationships and thyroid status of cockerels selected for high or low residual food consumption.

The plasma glucose-insulin relationships and thyroid status were investigated in two lines of adult cockerels divergently selected for high (R+) or low (R-) residual food consumption (RFC). For a given body weight, R+ birds had a 74% higher food intake than R- birds. Plasma glucose concentrations were significantly lower in the R+ line compared with the R- when fasted, whereas R+ birds exhibited a significantly lower plasma insulin concentration than R- birds either in fed or fasted state.

Isolation of functional glucagon islets of Langerhans from the chicken pancreas.

Two types of islets of Langerhans are present in the avian endocrine pancreas: glucagon islets (A-islets) and insulin islets (B-islets). Islets from the chicken pancreas were isolated by ductal injection of collagenase, enzymatic digestion, atraumatic dispersion of the digests at an appropriate time, and nylon mesh filtrations. A- and B-islets were identified by immunohistochemistry and radioimmunological quantification of insulin and glucagon.