Reference on EC 2.7.8.15 - UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase and Organism(s) Homo sapiens
Please use the Reference Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
topREF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Wu, X.; Rush, J.S.; Karaoglu, D.; Krasnewich, D.; Lubinsky, M.S.; Waechter, C.J.; Gilmore, R.; Freeze, H.H.
Deficiency of UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij
Hum. Mutat.
22
144-150
2003
Homo sapiens
Plante, M.; Claveau, S.; Lepage, P.; Lavoie, E.M.; Brunet, S.; Roquis, D.; Morin, C.; Vezina, H.; Laprise, C.
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population
Clin. Genet.
73
236-244
2008
Homo sapiens
Bretthauer, R.K.
Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1)
Curr. Drug Targets
10
477-482
2009
Bos taurus, Cricetulus griseus, Homo sapiens, Mus musculus, Rattus norvegicus
Kurosu, M.
Structure-based drug discovery by targeting N-glycan biosynthesis, dolichyl-phosphate N-acetylglucosaminephosphotransferase
Future Med. Chem.
11
927-933
2019
Homo sapiens (Q9H3H5)
Yuste-Checa, P.; Vega, A.I.; Martin-Higueras, C.; Medrano, C.; Gamez, A.; Desviat, L.R.; Ugarte, M.; Perez-Cerda, C.; Perez, B.
DPAGT1-CDG functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress
PLoS ONE
12
e0179456
2017
Homo sapiens (Q9H3H5), Homo sapiens
