Reference on EC 2.4.1.261 - dolichyl-P-Man:Man8GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Frank, C.G.; Grubenmann, C.E.; Eyaid, W.; Berger, E.G.; Aebi, M.; Hennet, T.
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL
Am. J. Hum. Genet.
75
146-150
2004
Homo sapiens (Q9H6U8)
Weinstein, M.; Schollen, E.; Matthijs, G.; Neupert, C.; Hennet, T.; Grubenmann, C.E.; Frank, C.G.; Aebi, M.; Clarke, J.T.; Griffiths, A.; Seargeant, L.; Poplawski N.
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
Am. J. Med. Genet. A
136
194-197
2005
Homo sapiens (Q9H6U8)
Frank, C.G.; Aebi, M.
ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis
Glycobiology
15
1156-1163
2005
Saccharomyces cerevisiae
Vleugels, W.; Keldermans, L.; Jaeken, J.; Butters, T.D.; Michalski, J.C.; Matthijs, G.; Foulquier, F.
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient
Glycobiology
19
910-917
2009
Homo sapiens (Q9H6U8)
Hong, Z.; Kajiura, H.; Su, W.; Jin, H.; Kimura, A.; Fujiyama, K.; Li, J.
Evolutionarily conserved glycan signal to degrade aberrant brassinosteroid receptors in Arabidopsis
Proc. Natl. Acad. Sci. USA
109
11437-11442
2012
Arabidopsis thaliana (Q9FZ49)
Tham, E.; Eklund, E.A.; Hammarsjoe, A.; Bengtson, P.; Geiberger, S.; Lagerstedt-Robinson, K.; Malmgren, H.; Nilsson, D.; Grigelionis, G.; Conner, P.; Lindgren, P.; Lindstrand, A.; Wedell, A.; Albage, M.; Zielinska, K.; Nordgren, A.; Papadogiannakis, N.; Nishimura, G.; Grigelioniene, G.
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Eur. J. Hum. Genet.
24
198-207
2016
Homo sapiens (Q9H6U8)
Tham, E.; Eklund, E.; Hammarsjoe, A.; Bengtson, P.; Geiberger, S.; Lagerstedt-Robinson, K.; Malmgren, H.; Nilsson, D.; Grigelionis, G.; Conner, P.; Lindgren, P.; Lindstrand, A.; Wedell, A.; Albage, M.; Zielinska, K.; Nordgren, A.; Papadogiannakis, N.; Nishimura, G.; Grigelioniene, G.
A novel phenotype in N-glycosylation disorders Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Eur. J. Hum. Genet.
24
198-207
2016
Homo sapiens (Q9H6U8)
Besse, W.; Chang, A.; Luo, J.; Triffo, W.; Moore, B.; Gulati, A.; Hartzel, D.; Mane, S.; Torres, V.; Somlo, S.; Mirshahi, T.
ALg9 mutation carriers develop kidney and liver cysts
J. Am. Soc. Nephrol.
30
2091-2102
2019
Homo sapiens (Q9H6U8)
AlSubhi, S.; AlHashem, A.; AlAzami, A.; Tlili, K.; AlShahwan, S.; Lefeber, D.; Alkuraya, F.; Tabarki, B.
Further delineation of the ALG9-CDG phenotype
JIMD Rep.
27
107-112
2016
Homo sapiens (Q9H6U8)
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