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Titolo:
Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy
Autore:
de Silva, R; Weiler, M; Morris, HR; Martin, ER; Wood, NW; Lees, AJ;
Indirizzi:
Royal Free & Univ Coll Med Sch, Reta Lila Weston Inst Neurol Studies, London W1T 4JF, England Royal Free & Univ Coll Med Sch London England W1T 4JFn W1T 4JF, England Univ London, Inst Neurol, Dept Clin Neurol, Neurogenet Sect, London WC1N 3BG, England Univ London London England WC1N 3BG genet Sect, London WC1N 3BG, England Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 t Med, Med Genet Sect, Durham, NC 27710 USA Univ London, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England Univ London London England WC1N 3BG lin Neurol, London WC1N 3BG, England
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 3, volume: 311, anno: 2001,
pagine: 145 - 148
SICI:
0304-3940(20011005)311:3<145:SAOANT>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE-SYSTEM TAUOPATHY; PRESENILE-DEMENTIA; GENE; CHROMOSOME-17; POLYMORPHISM; MUTATIONS; ISOFORMS; DISEASE; EXON-10; REGION;
Keywords:
progressive supranuclear palsy; parkinsonism; polymorphism; tau; promoter; neurodegeneration; tauopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: de Silva, R Royal Free & Univ Coll Med Sch, Reta Lila Weston Inst Neurol Studies, Windeyer Bldg,46 Cleveland St, London W1T 4JF, England Royal Free &Univ Coll Med Sch Windeyer Bldg,46 Cleveland St London England W1T 4JF
Citazione:
R. de Silva et al., "Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy", NEUROSCI L, 311(3), 2001, pp. 145-148

Abstract

The microtubule associated protein, tau, is found in fibrillar lesions that characterise progressive supranuclear palsy (PSP) and related tauopathies. Mutations in the tau gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and genetic association of the H1 haplotypeof the tau gene with PSP has firmly established a direct role for tau in disease pathogenesis. However, the functional significance of the tau genetic association in PSP is unknown. We analysed the tau gene promoter sequenceand identified two novel single nucleotide polymorphisms. Here we report the genetic association of a novel tau promoter haplotype with PSP which mayinfluence tau transcription. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 23:32:59