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ALG6 gene
Known as:
ALG6
, dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
, ALG6, S. CEREVISIAE, HOMOLOG OF
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.
M. Dercksen
,
A. Crutchley
,
+6 authors
J. Jaeken
JIMD Reports
2013
Corpus ID: 40883408
ALG6-CDG (formerly named CDG-Ic) (phenotype OMIM 603147, genotype OMIM 604566), is caused by defective endoplasmic reticulum α-1…
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2013
2013
Congenital disorder of glycosylation type Ic: Report of a Japanese case
K. Ichikawa
,
Machiko Kadoya
,
Y. Wada
,
N. Okamoto
Brain & development (Tokyo. )
2013
Corpus ID: 44406200
2006
2006
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
E. Eklund
,
Liangwu Sun
,
Samuel P. Yang
,
Romela Pasion
,
E. Thorland
,
H. Freeze
Biochemical and Biophysical Research…
2006
Corpus ID: 28307519
2005
2005
Effects of N-Glycosylation and Inositol on the ER Stress Response in Yeast Saccharomyces cerevisiae
S. Uchimura
,
M. Sugiyama
,
J. Nikawa
Bioscience, biotechnology and biochemistry
2005
Corpus ID: 12084838
IRE1 and HAC1 are essential for the unfolded protein response in the endoplasmic reticulum (ER). IRE1- and HAC1-disruptants…
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2003
2003
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation‐Ic
V. Westphal
,
M. Xiao
,
P. Kwok
,
H. Freeze
Human Mutation
2003
Corpus ID: 6115715
Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an α1,3 glucosyltransferase…
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2003
2003
Congenital disorder of glycosylation Ic in patients of Indian origin.
J. Newell
,
N. Seo
,
G. Enns
,
M. McCraken
,
J. Mantovani
,
H. Freeze
Molecular Genetics and Metabolism
2003
Corpus ID: 19424894
2001
2001
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
S. Vuillaumier‐Barrot
,
C. L. Bizec
,
G. Durand
,
N. Seta
Journal of Human Genetics
2001
Corpus ID: 9587267
AbstractA T911C (F304S) substitution in the ALG6 gene involved in congenital disorder of glycosylation type Ic (OMIM 603147) has…
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Highly Cited
2000
Highly Cited
2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
T. Imbach
,
S. Grünewald
,
+9 authors
T. Hennet
Human Genetics
2000
Corpus ID: 22890258
Abstract. Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent…
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2000
2000
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
V. Westphal
,
Celine Schottstädt
,
Thorsten Marquardt
,
H. Freeze
Molecular Genetics and Metabolism
2000
Corpus ID: 45561646
Congenital disorder of glycosylation Ic is caused by mutations in the hALG6 gene that encodes an alpha-1,3 glucosyltransferase…
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1994
1994
Glycosylation of yeast exoglucanase sequons in alg mutants deficient in the glucosylation steps of the lipid-linked oligosaccharide. Presence of glucotriose unit in Dol-PP-GlcNAc2Man9Glc3 influences…
M. D. Muñoz
,
L. M. Hernández
,
R. Basco
,
E. Andaluz
,
G. Larriba
Biochimica et Biophysica Acta
1994
Corpus ID: 43526190
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