Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation p...
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
About this item
Full title
Author / Creator
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, 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. and FORGE Canada Consortium
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 degr...
Alternative Titles
Full title
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
Authors, Artists and Contributors
Author / Creator
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, 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.
FORGE Canada Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4243708
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4243708
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2014.22
