Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
Autore:
Grunewald, S; Huyben, K; de Jong, JGN; Smeitink, JAM; Rubio, E; Boers, GHJ; Conradt, HS; Wendel, U; Wevers, RA;
Indirizzi:
Univ Nijmegen Hosp, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Metab Dis, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Gen Internal Med, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Gesell Biotechnol Forsch GmbH, Dept Mol Biol, D-38124 Braunschweig, Germany Gesell Biotechnol Forsch GmbH Braunschweig Germany D-38124 weig, Germany Univ Dusseldorf, Dept Pediat, D-40225 Dusseldorf, Germany Univ DusseldorfDusseldorf Germany D-40225 , D-40225 Dusseldorf, Germany
Titolo Testata:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
fascicolo: 1, volume: 1455, anno: 1999,
pagine: 54 - 60
SICI:
0925-4439(19990920)1455:1<54:BPIHCF>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN-SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SYNDROME TYPE-I; HUMAN SERUM; CARBOHYDRATE; TRANSFERRIN; DISEASES;
Keywords:
human beta-trace protein; 'brain-type' glycosylation; carbohydrate deficient glycoprotein syndrome; CDGS type I; phosphomannomutase deficiency;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Wevers, RA Univ Nijmegen Hosp, Lab Pediat & Neurol, POB 9101, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp POB 9101 Nijmegen Netherlands NL-6500 HB ds
Citazione:
S. Grunewald et al., "beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain", BBA-MOL BAS, 1455(1), 1999, pp. 54-60

Abstract

As carbohydrate-deficient glycoprotein syndromes (CDGS) are multisystemic disorders with impaired central nervous function in nearly all cases, we tested isoforms of beta-trace protein (beta TP), a 'brain-type' glycosylated protein in cerebrospinal fluid (CSF) of nine patients with the characteristic CDGS type I pattern of serum transferrin. Whereas the serum transferrin pattern did not discriminate between the various subtypes of CDGS type I (CDGS type Ia, type Ic and patients with unknown defect), beta TP isoforms ofCDGS type Ia patients differed from that of the other CDGS type I patients. The percentage of abnormal beta TP isoforms correlated with the severity of the neurological symptoms. Furthermore, two patients are described, who illustrate that abnormal protein N-glycosylation can occur restricted to either the 'peripheral' serum or the central nervous system compartment. Thisis the first report presenting evidence for an N-glycosylation defect restricted to the brain. Testing PTP isoforms is a useful tool to detect protein N-glycosylation disorders in the central nervous system. (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 01/12/20 alle ore 10:43:23