PWS Research Publications

FPWR

Recent Posts

Emerging roles of the MAGE protein family in stress response pathways

The melanoma antigen (MAGE) proteins all contain a MAGE homology domain (MHD). MAGE genes are conserved in all eukaryotes and have expanded from a single gene in lower eukaryotes to approximately 40 genes in humans and mice. While some MAGEs are ubiquitously expressed in tissues, others are...

Unravelling the Biology of snoRNAs Implicated in Prader-Willi syndrome

Prader-Willi Syndrome is a rare genetic neurodevelopmental disorder that gives rise to a vast array of symptoms which affect the individual from birth. There is currently no cure for Prader-Willi Syndrome. Professor Gordon Carmichael and his team from the Department of Genetics and Genome Sciences...

Prader-Willi syndrome: reflections on seminal studies and future therapies

Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic imprinting of the 15q11-q13 locus is established in...

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

Introduction Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess body fat, developmental delays, intellectual disability, behavioral problems, and growth hormone deficiency. This study evaluated the safety and efficacy of...

Orexigen-sensitive NPY/AgRP pacemaker neurons in the hypothalamic arcuate nucleus

The hypothalamic arcuate nucleus (ARC) integrates and responds to satiety and hunger signals and forms the origins of the central neural response to perturbations in energy balance. Here we show that rat ARC neurons containing neuropeptide Y (NPY) and agouti-related protein (AgRP), which are...