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Titolo:
THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS
Autore:
JAEKEN J; CARCHON H; STIBLER H;
Indirizzi:
UNIV HOSP GASTHUISBERG,HERESTR 49 B-3000 LOUVAIN BELGIUM CATHOLIC UNIV LEUVEN,DEPT PEDIAT B-3000 LOUVAIN BELGIUM KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM 60 SWEDEN
Titolo Testata:
Glycobiology
fascicolo: 5, volume: 3, anno: 1993,
pagine: 423 - 428
SICI:
0959-6658(1993)3:5<423:TCGS-P>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
OLIVOPONTOCEREBELLAR ATROPHY; NEONATAL ONSET; TRANSFERRIN; SERUM; ABNORMALITIES; BIOSYNTHESIS; FIBROBLASTS; PATIENT;
Keywords:
ENDOPLASMIC RETICULUM; GLYCOPROTEINS; GLYCOSYLATION; GOLGI; SIALOTRANSFERRINS;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
48
Recensione:
Indirizzi per estratti:
Citazione:
J. Jaeken et al., "THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS", Glycobiology, 3(5), 1993, pp. 423-428

Abstract

The carbohydrate-deficient glycoprotein syndromes are a recently delineated group of genetic, multisystemic diseases with major nervous system involvement. Three distinct variants have been recognized and there are probably many more. They are characterized by a deficiency of the carbohydrate moiety of secretory glycoproteins, lysosomal enzymes and probably also membranous glycoproteins. The biochemical changes are most readily observed in serum transferrin and the diagnosis is usually made by isoelectric focusing of this glycoprotein. The deficiency ofsialic acid, in particular, results in a cathodal shift and hence thepresence of abnormal isoforms of transferrin with higher isoelectric points than normal. The basic defects are probably in the processing and synthesis of the carbohydrate moiety of glycoproteins; there is indirect evidence for a deficiency of asparagine-N-linked oligosaccharidetransfer in type I (endoplasmic reticulum defect) and for a deficiency of N-acetylglucosaminyltransferase II in type II (Golgi defect). From the large number of patients detected in only a few years, it is expected that these diseases will become as important as, for example, the lysosomal, peroxisomal or mitochondrial disorders. Their study will undoubtedly yield a wealth of new information on the function of glycoproteins and of their carbohydrate moiety.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 09:46:28