Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big step towards understanding the effects of this mutation, research by scientists at the RIKEN-Max Planck Joint Research Center implicate the enzyme ENGase as the factor responsible for deficient protein degradation … Continue reading Researchers uncover the epigenetic-based mechanism of newly discovered genetic disease.