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Titolo:
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Autore:
Kim, S; Westphal, V; Srikrishna, G; Mehta, DP; Peterson, S; Filiano, J; Karnes, PS; Patterson, MC; Freeze, HH;
Indirizzi:
Burnham Inst, La Jolla, CA 92037 USA Burnham Inst La Jolla CA USA 92037Burnham Inst, La Jolla, CA 92037 USA Dartmouth Coll, Hitchcock Med Ctr, Lebanon, NH 03756 USA Dartmouth Coll Lebanon NH USA 03756 chcock Med Ctr, Lebanon, NH 03756 USA Mayo Clin & Mayo Fdn, Rochester, MN 55905 USA Mayo Clin & Mayo Fdn Rochester MN USA 55905 Fdn, Rochester, MN 55905 USA
Titolo Testata:
JOURNAL OF CLINICAL INVESTIGATION
fascicolo: 2, volume: 105, anno: 2000,
pagine: 191 - 198
SICI:
0021-9738(200001)105:2<191:DPMS(M>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; HAMSTER OVARY CELLS; SERUM TRANSFERRIN; LINKED OLIGOSACCHARIDES; N-GLYCOSYLATION; C-MANNOSYLATION; MAMMALIAN-CELLS; BINDING; THERAPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
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:
S. Kim et al., "Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)", J CLIN INV, 105(2), 2000, pp. 191-198

Abstract

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies inglycoprotein biosynthesis that usually cause severe mental and psychomotorretardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal TfIEF patterns were analyzed by metaboliclabeling of fibroblasts with [2-H-3]mannose. The patients produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues. Addition of 250 mu M mannose to the culture medium corrected the size of the truncated oligosaccharide. Microsomes from fibroblasts of these patients were approximately 95% deficient in dolichol-phosphate-mannose (Dol-P-Man) synthase activity, with an apparent K-m for GDP-Man similar to 6-fold higher than normal. DPM1, the gene coding for the catalytic subunit of Dol-P-Man synthase, was altered in both patients. One patient had a point mutation, C(274)G, causing an R(92)G change in the coding sequence. The other patient also had the C274G mutation and a 13-bp deletion that presumably resulted in an unstable transcript. Defects in DPM1 define a new glycosylation disorder, CDG-Ie.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 09:17:48