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Titolo:
Congenital disorders involving defective N-glycosylation of proteins
Autore:
Schachter, H;
Indirizzi:
Hosp Sick Children, Res Inst, Dept Struct Biol & Biochem, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Biochem, Toronto, ON M5G 1X8, Canada Univ Toronto Toronto ON Canada M5G 1X8 ochem, Toronto, ON M5G 1X8, Canada
Titolo Testata:
CELLULAR AND MOLECULAR LIFE SCIENCES
fascicolo: 8, volume: 58, anno: 2001,
pagine: 1085 - 1104
SICI:
1420-682X(200107)58:8<1085:CDIDNO>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN-SYNDROME; SYNDROME TYPE-I; ANEMIA TYPE-II; LEUKOCYTE ADHESION DEFICIENCY; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; DOLICHOL-PHOSPHATE-MANNOSE; ASPARAGINE-LINKED OLIGOSACCHARIDES; HAMSTER OVARY CELLS; ALPHA-D-MANNOSIDASE; SYNDROME TYPE 1A;
Keywords:
glycosylation; N-glycans; congenital disease; congenital disorders of glycosylation; congenital dyserythropoietic anemia; leukocyte adhesion deficiency; mannose metabolism; fucose metabolism;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
239
Recensione:
Indirizzi per estratti:
Indirizzo: Schachter, H Hosp Sick Children, Res Inst, Dept Struct Biol & Biochem, 555Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children 555 Univ Ave Toronto ON Canada M5G 1X8 ada
Citazione:
H. Schachter, "Congenital disorders involving defective N-glycosylation of proteins", CELL MOL L, 58(8), 2001, pp. 1085-1104

Abstract

This review deals with several of the main autosomal recessive congenital disorders involving defective N-glycosylation of proteins (the addition of glycans linked to the polypeptide chain by a beta -linkage between the anomeric carbon of N-acetylglucosamine and the amido group of L-asparagine). These congenital disorders of glycosylation (CDG, previously known as carbohydrate-deficient glycoprotein syndromes) are a group of multisystemic diseases often involving severe psychomotor retardation. Six distinct variants ofCDG in group I (types Ia-If) have been described to date and the defects have been localized to deficiencies in the assembly of the dolichylpyrophosphate-linked oligosaccharide N-glycan precursor and its transfer to asparagine residues on the nascent polypeptides. Two variants of CDG group II (types IIa and IIb) have been identified as defects in the processing of protein-bound N-glycans. Hereditary erythroblastic multinuclearity with a positiveacidified-serum lysis test (HEMPAS; congenital dyserythropoietic anemia type II) presents as a relatively mild dyserythropoietic anemia. The genetic defect in most cases of HEMPAS is not known, but alpha -3/6-mannosidase II is involved in at least some patients. Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and growth retardation. LAD II is due to lack of availability of GDP-fucose. The study of these diseases and of relevant animal models has provided strong evidence that N-glycans are essential for normal mammalian development.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:06:13