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Titolo:
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity
Autore:
Freeze, HH; Aebi, M;
Indirizzi:
Burnham Inst, La Jolla, CA 92037 USA Burnham Inst La Jolla CA USA 92037Burnham Inst, La Jolla, CA 92037 USA ETH Zurich, Inst Mikrobiol, CH-092 Zurich, Switzerland ETH Zurich ZurichSwitzerland CH-092 krobiol, CH-092 Zurich, Switzerland
Titolo Testata:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
fascicolo: 2-3, volume: 1455, anno: 1999,
pagine: 167 - 178
SICI:
0925-4439(19991008)1455:2-3<167:MBOCGS>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
SERUM TRANSFERRIN ISOFORMS; ISOMERASE DEFICIENCY; N-GLYCOSYLATION; C-MANNOSYLATION; OLIGOSACCHARIDE TRANSFER; LINKED OLIGOSACCHARIDES; PROTEIN GLYCOSYLATION; ALCOHOL-CONSUMPTION; POTENTIAL THERAPY; MANNOSE;
Keywords:
carbohydrate deficient glycoprotein syndrome; mannose; therapy; phosphomannose isomerase; alpha-glucosyltransferase; metabolic disorder;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
69
Recensione:
Indirizzi per estratti:
Indirizzo: Freeze, HH Burnham Inst, 10901 N Torrey Pines Rd, La Jolla, CA 92037 USA Burnham Inst 10901 N Torrey Pines Rd La Jolla CA USA 92037 USA
Citazione:
H.H. Freeze e M. Aebi, "Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity", BBA-MOL BAS, 1455(2-3), 1999, pp. 167-178

Abstract

Carbohydrate deficient glycoprotein syndromes (CDGS) are inherited disorders in glycosylation. Isoelectric focusing of serum transferrin is used as abiochemical indicator of CDGS; however, this technique cannot diagnose themolecular defect. Even though phosphomannomutase (PMM) deficiency accountsfor the great majority of known CDGS cases (CDGS type Ia), newly discovered cases have significantly different clinical presentations than the PMM-deficient patients. These differences arise from other defects affecting the biosynthesis of N-linked oligosaccharides in the endoplasmic reticulum and in the Golgi compartment. The most notable is the loss of phosphomannose isomerase (PMI) (CDGS type Ib). It causes severe hypoglycemia, protein-losingenteropathy, vomiting, diarrhea, and congenital hepatic fibrosis. In contrast to PMM-deficiency, there is no developmental delay nor neuropathy. Mostsymptoms in the PMI-deficient patients can be successfully treated with dietary mannose supplements. Another defect is the lack of glucosylation of the lipid-linked oligosaccharide precursor. The clinical features of this form of CDGS are milder, but similar to, PMM-deficient patients. Yeast genetic and biochemical techniques were critical in unraveling these disorders since many of the defective genes were known in yeast and corresponding mutants were available for complementation. Yeast strains carrying mutations in the homologous genes are likely to provide conclusive identification of theprimary defects in novel CDGS types that affect the synthesis and transferof precursor oligosaccharides. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 23:37:44