Topic: JAK/STAT

Autism spectrum disorder (ASD) affects approximately 1 in 36 individuals, imposing lifelong challenges on patients. Yet still, effective treatments for ASD remain elusive. Rare mutations in the SETD5 (SET Domain Containing 5) gene, a chromatin regulator, have been firmly linked to ASD with high confidence. To date, reports studying the molecular role of SETD5 are limited and how exactly SETD5 haploinsufficiency leads to ASD remains unclear. Setd5-haploinsufficient mice have successfully demonstrated ASD-like behaviours, yet they fail to accurately replicate human brain development and patholog

We have identified a DEAD box RNA helicase and christened it as maheshvara after the powerful Hindu God Lord Shiva. Maheshvara is a novel modulator of important signaling pathways like Notch and JAK/STAT. This novel gene has an orthologue of human DDX59. Our study parallels our identification of DDX59 mutations in the human orthologue of maheshvara which causes neurological defects in humans. Our observations suggests the role of maheshvara (mahe) in modulating cellular signaling, neuronal development and disease.In addition, We have also identified novel RNA binding proteins (RBPs) which supp