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Titolo:
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene ismutated in recessive hereditary inclusion body myopathy
Autore:
Eisenberg, I; Avidan, N; Potikha, T; Hochner, H; Chen, M; Olender, T; Barash, M; Shemesh, M; Sadeh, M; Grabov-Nardini, G; Shmilevich, I; Friedmann, A; Karpati, G; Bradley, WG; Baumbach, L; Lancet, D; Ben Asher, E; Beckmann, JS; Argov, Z; Mitrani-Rosenbaum, S;
Indirizzi:
Hebrew Univ Jerusalem, Hadassah Med Sch, Mol Biol Unit, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 -91010 Jerusalem, Israel Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Neurol, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 -91010 Jerusalem, Israel Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel Weizmann Inst Sci Rehovot Israel IL-76100 enet, IL-76100 Rehovot, Israel Weizmann Inst Sci, Crown Genome Ctr, IL-76100 Rehovot, Israel Weizmann Inst Sci Rehovot Israel IL-76100 Ctr, IL-76100 Rehovot, Israel Wolfson Govt Hosp, Dept Neurol, Holon, Israel Wolfson Govt Hosp Holon Israel on Govt Hosp, Dept Neurol, Holon, Israel McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada McGill Univ Montreal PQ Canada H3A 2B4 surg, Montreal, PQ H3A 2B4, Canada Univ Miami, Sch Med, Dept Neurol, Miami, FL USA Univ Miami Miami FL USAUniv Miami, Sch Med, Dept Neurol, Miami, FL USA Univ Miami, Sch Med, Dept Pediat, Miami, FL USA Univ Miami Miami FL USAUniv Miami, Sch Med, Dept Pediat, Miami, FL USA
Titolo Testata:
NATURE GENETICS
fascicolo: 1, volume: 29, anno: 2001,
pagine: 83 - 87
SICI:
1061-4036(200109)29:1<83:TU2KGI>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACETYLNEURAMINIC ACID BIOSYNTHESIS; BIFUNCTIONAL ENZYME CATALYZES; FIRST 2 STEPS; SEQUENCE ALIGNMENTS; DISTAL MYOPATHY; RIMMED VACUOLE; RAT-LIVER; 2-EPIMERASE; LOCUS; SITE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Mitrani-Rosenbaum, S Hebrew Univ Jerusalem, Hadassah Med Sch, Mol Biol Unit, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 ael
Citazione:
I. Eisenberg et al., "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene ismutated in recessive hereditary inclusion body myopathy", NAT GENET, 29(1), 2001, pp. 83-87

Abstract

Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions'. The autosomal recessive form described in Jews of Persian descent(2) is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps(3). This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews(4). We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref.5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and theBahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GIVE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. our findings indicate that GIVE is the gene responsible for recessive HIBM.

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Documento generato il 11/07/20 alle ore 07:52:40