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Titolo:
Carbohydrate-deficient glycoprotein syndromes
Autore:
Koscielak, J;
Indirizzi:
Inst Hematol & Blood Transfus, Dept Biochem, PL-00957 Warsaw, Poland Inst Hematol & Blood Transfus Warsaw Poland PL-00957 0957 Warsaw, Poland
Titolo Testata:
ACTA BIOCHIMICA POLONICA
fascicolo: 3, volume: 46, anno: 1999,
pagine: 727 - 738
SICI:
0001-527X(1999)46:3<727:CGS>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; N-ACETYLGLUCOSAMINYLTRANSFERASE-II; HEREDITARY FRUCTOSE INTOLERANCE; LIPID-LINKED OLIGOSACCHARIDE; SYNDROME TYPE 1A; ANEMIA TYPE-II; LINKAGE DISEQUILIBRIUM; PROTEIN GLYCOSYLATION; ABNORMAL SYNTHESIS;
Keywords:
carbohydrate-deficient glycoprotein syndrome; N-linked glycosylation;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
85
Recensione:
Indirizzi per estratti:
Indirizzo: Koscielak, J Inst Hematol & Blood Transfus, Dept Biochem, Chocimska 5, PL-00957 Warsaw,Poland Inst Hematol & Blood Transfus Chocimska 5 Warsaw Poland PL-00957
Citazione:
J. Koscielak, "Carbohydrate-deficient glycoprotein syndromes", ACT BIOCH P, 46(3), 1999, pp. 727-738

Abstract

Carbohydrate-deficient glycoprotein syndromes are rare, multisystemic diseases, typically with major nervous system impairment, that are caused by hypo- and unglycosylation of N-linked glycoproteins. Hence, a biochemical evidence of this abnormality, like hypoglycosylation of serum transferrin is essential for diagnosis. Clinically and biochemically, six types of the disease have been delineated. Three of them are caused by deficiencies of the enzymes that are required for a proper glycosylation of lipid - (dolichol) linked oligosaccharide (phosphomannomutase or phosphomannose isomerase or alpha-glycosyltransferase), and one results from a deficiency of Golgi resident N-acetylglucosaminyltransferase II. In addition one variant of the disease has been reported as due to a defective biosynthesis of dolichol iself. The diseases are heritable but genetics has been established for only two types. Therapy, based on administration of mannose to patients is currently under investigation. It benefits patients with deficiency of phosphomannoseisomerase. Taking into account the complexity of N-linked glycosylation ofproteins more of the disease variants is expected to be found.

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Documento generato il 02/12/20 alle ore 18:21:50