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Titolo:
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronicvariant of the disease-associated H1 haplotype in Italian cases
Autore:
Bonifati, V; Joosse, M; Nicholl, DJ; Vanacore, N; Bennett, P; Rizzu, P; Fabbrini, G; Marconi, R; Colosimo, C; Locuratolo, N; Stocchi, F; Bonuccelli, U; De Mari, M; Wenning, G; Vieregge, P; Oostra, B; Meco, G; Heutink, P;
Indirizzi:
Univ Rome La Sapienza, Dept Neurosci, I-00185 Rome, Italy Univ Rome La Sapienza Rome Italy I-00185 t Neurosci, I-00185 Rome, Italy Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Univ Birmingham, Dept Clin Neurol, Birmingham B15 2QZ, W Midlands, EnglandUniv Birmingham Birmingham W Midlands England B15 2QZ W Midlands, England Univ Birmingham, Dept Psychiat, Birmingham B15 2QZ, W Midlands, England Univ Birmingham Birmingham W Midlands England B15 2QZ W Midlands, England Mater Misericordiae Hosp, Serv Neurol, I-58100 Grosseto, Italy Mater Misericordiae Hosp Grosseto Italy I-58100 I-58100 Grosseto, Italy Univ Pisa, Neurol Inst, I-57100 Pisa, Italy Univ Pisa Pisa Italy I-57100Univ Pisa, Neurol Inst, I-57100 Pisa, Italy Univ Bari, Inst Neurol, I-70126 Bari, Italy Univ Bari Bari Italy I-70126Univ Bari, Inst Neurol, I-70126 Bari, Italy Innsbruck Univ, Neurol Klin, A-6020 Innsbruck, Austria Innsbruck Univ Innsbruck Austria A-6020 Klin, A-6020 Innsbruck, Austria Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany Univ Lubeck Lubeck Germany D-23538 Dept Neurol, D-23538 Lubeck, Germany
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 1, volume: 274, anno: 1999,
pagine: 61 - 65
SICI:
0304-3940(19991015)274:1<61:TTGIPS>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
RICHARDSON-OLSZEWSKI SYNDROME; PRE-MESSENGER-RNA; PROTEIN-TAU; FRONTOTEMPORAL DEMENTIA; DEGENERATION; CHROMOSOME-17; INVOLVEMENT; MISSENSE;
Keywords:
progressive supranuclear palsy; tau gene; sequencing; splicing effect; R406W mutation; +39 Delta G variant; exon 4;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Bonifati, V Univ Rome La Sapienza, Dept Neurosci, Viale Univ 30, I-00185 Rome, Italy Univ Rome La Sapienza Viale Univ 30 Rome Italy I-00185 Italy
Citazione:
V. Bonifati et al., "The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronicvariant of the disease-associated H1 haplotype in Italian cases", NEUROSCI L, 274(1), 1999, pp. 61-65

Abstract

Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17). We sequenced the 11 coding exons plus exon-intron boundaries of the tau gene in 15 cases of progressive supranuclear palsy (PSP), and found no mutations in coding exons or exon ten 5'-splice sites. These data indicate that typical PSP is not associated with tau gene mutations similar to those causing FTDP-17. We also observed a +39 Delta G base change in the intron following exon 4 in th ree out of 69 PSP cases (all three Italians), whereas it was not found in 150 Dutch controls and once in 112 Italian controls. The +39 Delta G variant arose in the context of the PSP-associated tau H1 haplotype. Although a pathogenic role cannot be entirely excluded, +39 Delta G is likely to be a rare polymorphism that may be in linkage disequilibrium with a biologically relevant locus inside or near to the tau gene. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

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Documento generato il 30/11/20 alle ore 10:16:22