Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
About this item
Full title
Author / Creator
Lam, Christina , Ferreira, Carlos , Krasnewich, Donna , Toro, Camilo , Latham, Lea , Zein, Wadih M. , Lehky, Tanya , Brewer, Carmen , Baker, Eva H. , Thurm, Audrey , Farmer, Cristan A. , Rosenzweig, Sergio D. , Lyons, Jonathan J. , Schreiber, John M. , Gropman, Andrea , Lingala, Shilpa , Ghany, Marc G. , Solomon, Beth , Macnamara, Ellen , Davids, Mariska , Stratakis, Constantine A. , Kimonis, Virginia , Gahl, William A. and Wolfe, Lynne
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).
Prospective natural history protocol.
In 12 individuals ages...
Alternative Titles
Full title
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Authors, Artists and Contributors
Author / Creator
Ferreira, Carlos
Krasnewich, Donna
Toro, Camilo
Latham, Lea
Zein, Wadih M.
Lehky, Tanya
Brewer, Carmen
Baker, Eva H.
Thurm, Audrey
Farmer, Cristan A.
Rosenzweig, Sergio D.
Lyons, Jonathan J.
Schreiber, John M.
Gropman, Andrea
Lingala, Shilpa
Ghany, Marc G.
Solomon, Beth
Macnamara, Ellen
Davids, Mariska
Stratakis, Constantine A.
Kimonis, Virginia
Gahl, William A.
Wolfe, Lynne
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7477955
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7477955
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.75
