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Titolo:
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Autore:
Schenk, B; Imbach, T; Frank, CG; Grubenmann, CE; Raymond, GV; Hurvitz, H; Raas-Rotschild, A; Luder, AS; Jaeken, J; Berger, EG; Matthijs, G; Hennet, T; Aebi, M;
Indirizzi:
Swiss Fed Inst Technol, Inst Microbiol, Zurich, Switzerland Swiss Fed InstTechnol Zurich Switzerland icrobiol, Zurich, Switzerland Univ Zurich, Inst Physiol, CH-8006 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8006 siol, CH-8006 Zurich, Switzerland Kennedy Krieger Inst, Baltimore, MD USA Kennedy Krieger Inst Baltimore MDUSA dy Krieger Inst, Baltimore, MD USA Bikur Cholim Hosp, Dept Pediat, Jerusalem, Israel Bikur Cholim Hosp Jerusalem Israel Hosp, Dept Pediat, Jerusalem, Israel Hadassah Univ Hosp, Genet Clin, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 IL-91120 Jerusalem, Israel Technion Israel Inst Technol, Fac Med, Haifa, Israel Technion Israel Inst Technol Haifa Israel chnol, Fac Med, Haifa, Israel Sieff Hosp, Dept Pediat, Safed, Israel Sieff Hosp Safed IsraelSieff Hosp, Dept Pediat, Safed, Israel Univ Hosp, Dept Pediat, Louvain, Belgium Univ Hosp Louvain BelgiumUniv Hosp, Dept Pediat, Louvain, Belgium Catholic Univ, Ctr Human Genet, Louvain, Belgium Catholic Univ Louvain Belgium c Univ, Ctr Human Genet, Louvain, Belgium
Titolo Testata:
JOURNAL OF CLINICAL INVESTIGATION
fascicolo: 11, volume: 108, anno: 2001,
pagine: 1687 - 1695
SICI:
0021-9738(200112)108:11<1687:MMUANH>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN-SYNDROME; HAMSTER OVARY CELLS; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; N-LINKED OLIGOSACCHARIDES; WATER-SOLUBLE ANALOG; ENDOPLASMIC-RETICULUM; DOLICHYL PHOSPHATE; SERUM TRANSFERRIN; PROTEIN; BIOSYNTHESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Aebi, M ETH Zentrum, Inst Mikrobiol, LFV E20, CH-8092 Zurich, Switzerland ETH Zentrum LFV E20 Zurich Switzerland CH-8092 urich, Switzerland
Citazione:
B. Schenk et al., "MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If", J CLIN INV, 108(11), 2001, pp. 1687-1695

Abstract

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe themolecular basis of a novel type of the disease in three unrelated patientsdiagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients'fibroblasts accumulated incomplete lipid-linked oligosaccharide precursorsfor N-linked protein glycosylation. Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, knownto be involved in the use of dolichylphosphomannose and dolichylphosphoglucose, revealed mutations in all three patients. Retroviral-based expressionof the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis. We concluded that mutations inthe Lec35/MPDU1 gene cause CDG. This novel type was termed CDG-If.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 10:37:47