Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

1996 ◽  
Vol 243 (10) ◽  
pp. 700-705 ◽  
Author(s):  
Lorenzo Pavone ◽  
Agata Fiumara ◽  
Rita Barone ◽  
Renata Rizzo ◽  
Piera Buttitta ◽  
...  
Keyword(s):  
Olivopontocerebellar Atrophy ◽  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

Immunoglobulin Levels in Patients with Carbohydrate-Deficient Glycoprotein Syndrome Type I

1997 ◽  
Vol 114 (2) ◽  
pp. 116-119 ◽  
Author(s):  
J.E.M. Björklund ◽  
H. Stibler ◽  
B. Kristiansson ◽  
S.G.O. Johansson ◽  
C.G.M. Magnusson
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Immunoglobulin Levels

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

Genomics ◽  
1996 ◽  
Vol 35 (3) ◽  
pp. 597-599 ◽  
Author(s):  
Gert Matthijs ◽  
Eric Legius ◽  
Els Schollen ◽  
Petra Vandenberk ◽  
Jaak Jaeken ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

Intestinal, Pancreatic and Hepatic Involvement in Carbohydrate-Deficient Glycoprotein Syndrome Type I

1998 ◽  
Vol 27 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Bengt Kristianson ◽  
Stefan Borulf ◽  
Nils Conradi ◽  
Charlotte Erlanson-Albertsson ◽  
Walter Ryd ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Hepatic Involvement ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

scholarly journals Microheterogeneity of Serum Glycoproteins in Patients with Chronic Alcohol Abuse Compared with Carbohydrate-deficient Glycoprotein Syndrome Type I

1999 ◽  
Vol 45 (9) ◽  
pp. 1408-1413 ◽  
Author(s):  
Hugues Henry ◽  
Florian Froehlich ◽  
Renaud Perret ◽  
Jean-Daniel Tissot ◽  
Barbara Eilers-Messerli ◽  
...  
Keyword(s):  
Alcohol Abuse ◽  
Variable Number ◽  
Glycosylation Site ◽  
Type I ◽  
Syndrome Type ◽  
Chronic Alcohol ◽  
Chronic Alcohol Abuse ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Transferrin Isoforms

Abstract Background: Chronic alcohol abuse alters the normal N-glycosylation of transferrin, producing the carbohydrate-deficient transferrin isoforms. This alteration could be similar to that present in patients with carbohydrate-deficient glycoprotein syndrome type 1 (CDG1). We thus compared the alterations of N-glycans present in patients with alcoholism and patients with CDG1. Methods: The N-glycans of serum glycoproteins were compared in sera of patients with alcoholism, patients with CDG1, and controls by two-dimensional electrophoresis, neuraminidase, peptide:N-glycosidase F, and endoglycosidase F2 treatments. A specific antibody directed against the amino acid sequence surrounding the N-432 N-glycosylation site of transferrin was prepared (SZ-350 antibody). Results: In patients with alcoholism, the abnormal transferrin and α1-antitrypsin isoforms were devoid of a variable number of entire N-glycan moieties and were identical with those present in CDG1. In the serum of patients with alcoholism, this finding was less pronounced than in CDG1. In contrast to CDG1, there was no decrease in clusterin or serum amyloid P in patients with alcoholism. The SZ-350 antibody recognized only transferrin isoforms with one or no N-glycan moieties. Conclusion: Antibodies directed against specific N-glycosylation sites of glycoproteins could be useful for developing more specific immunochemical tests for the diagnosis of chronic alcohol abuse.

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