Article
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2014
Enns Gregory M, Shashi Vandana, Bainbridge Matthew, Gambello Michael J, Zahir Farah R, Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, Bernstein Jonathan A, Scavina Mena, Walter Rhonda S, Bibb Audrey, Jones Melanie, Hegde Madhuri, Graham Brett H, Need Anna C, Oviedo Angelica, Schaaf Christian P, Boyle Sean, Butte Atul J, Chen Rui, Chen Rong, Clark Michael J, Haraksingh Rajini, Cowan Tina M, He Ping, Langlois Sylvie, Zoghbi Huda Y, Snyder Michael, Gibbs Richard A, Freeze Hudson H, Goldstein David B
Abstract excerpt
PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.