The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Cdk5-Mediated Brain Unfolded Protein Response Upregulation Associated with Cognitive Impairments in Type 2 Diabetes and Ameliorative Action of NAC.

The role of cyclin-dependent kinase 5 (Cdk5) in the normal functioning of the central nervous system and synaptic plasticity is well established. However, dysregulated kinase activity can have a significant impact on neurodegeneration and cognitive impairment. Cdk5 hyperactivation is linked to diabetes-associated neurodegeneration, but the underlying mechanism is not fully understood.

WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.

Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency of 1 in 90 and a prevalence of 1 in 30,000. The disease owes its genesis to Kinnier Wilson who described the disease, and is caused by accumulation of Copper (Cu) in various organs including the liver, central nervous system, cornea, kidney, joints and cardiac muscle which contribute to the characteristic clinical features of WD. A number of studies have reported genetic variants in the ATP7B gene from diverse ethnic and geographical origins.