Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

Molecular Genetics and Metabolism

Volumn 70, Issue 3, 2000, Pages 219-223

  Westphal, Vibeke ^a   Schottstädt, Celine ^b   Marquardt, Thorsten ^b   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

ALG6; CDG; Congenital disorder of glycosylation I c; Glycosylation defect; Mental retardation; Oligosaccharide; Yeast; 1,3 glucosyltransferase

Indexed keywords

ASPARAGINE LINKED OLIGOSACCHARIDE; COMPLEMENTARY DNA; DNA; GLUCOSYLTRANSFERASE; GLYCOPROTEIN; RNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; GENE MUTATION; GLYCOSYLATION; HUMAN; MALE; MENTAL DEFICIENCY; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE;

EID: 0033868851     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3017     Document Type: Article

References (17)

1. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity
2. Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
3. A mutation that prevents glucosylation of the lipid-linked oligosaccharide precursor leads to underglycosylation of secreted yeast invertase
4. Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: Identification of the ALG9 gene encoding a putative mannosyl transferase
5. How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum
6. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
7. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
8. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
9. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a Congenital Disorder of Glycosylation (CDG-Ic)
10. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
11. Congenital disorder of glycosylation-Ic: Case report and genetic defect
12. Getting started with yeast
13. Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway
14. Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1
15. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) [see comments]
16. Carbohydrate-deficient glycoprotein syndrome type Ib: Phosphomannose isomerase deficiency and mannose therapy [see comments]