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Titolo:
Congenital disorders of glycosylation
Autore:
Jaeken, J; Matthijs, G;
Indirizzi:
Katholieke Univ Leuven, Ctr Metab Dis, Dept Paediat, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium , Dept Paediat, Louvain, Belgium Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium tr Human Genet, Louvain, Belgium
Titolo Testata:
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
, volume: 2, anno: 2001,
pagine: 129 - 151
SICI:
1527-8204(2001)2:<129:CDOG>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT-GLYCOPROTEIN-SYNDROME; SYNDROME TYPE-I; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SYNDROME TYPE 1A; HEREDITARY MULTIPLE EXOSTOSES; AUTOSOMAL RECESSIVE DISEASE; NORMAL PUBERTAL DEVELOPMENT; TUMOR SUPPRESSORS EXT1; N-GLYCAN SYNTHESIS; CDG SYNDROME;
Keywords:
CDG; CDG-x; N-glycan; O-glycan; transferrin;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
163
Recensione:
Indirizzi per estratti:
Indirizzo: Jaeken, J Katholieke Univ Leuven, Ctr Metab Dis, Dept Paediat, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium diat, Louvain, Belgium
Citazione:
J. Jaeken e G. Matthijs, "Congenital disorders of glycosylation", ANN REV GEN, 2, 2001, pp. 129-151

Abstract

Congenital disorders of glycosylation (CDG) are a rapidly growing group ofgenetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic. acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An efficient treatment, namely oral D-mannose, is availablefor only one CDG (CDG-Ib). In many patients with CDG, the basic defect is unknown (CDG-x). Glycan structural analysis, yeast genetics, and knockout animal models are essential tools in the elucidation of novel CDG. Eleven primary genetic glycosylation diseases have been discovered and their basic defects identified: six in the N-glycan assembly, three in the N-glycan processing, and two in the O-glycan (glycosaminoglycan) assembly. This review summarizes their clinical, biochemical, and genetic characteristics and speculates on further developments in this field.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 18:52:10