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Titolo:
No pathogenic mutations in the synphilin-1 gene in Parkinson's disease
Autore:
Bandopadhyay, R; de Silva, R; Khan, N; Graham, E; Vaughan, J; Engelender, S; Ross, C; Morris, H; Morris, C; Wood, NW; Daniel, S; Lees, A;
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 Inst Neurol, Univ Dept Clin Neurol, Neurogenet Unit, London WC1N 3BG, England Inst Neurol London England WC1N 3BG genet Unit, London WC1N 3BG, England Inst Neurol, Parkinsons Dis Soc Brain Res Ctr, London WC1N 1PJ, England Inst Neurol London England WC1N 1PJ in Res Ctr, London WC1N 1PJ, England Johns Hopkins Med Inst, Dept PSychiat & Neurosci, Baltimore, MD 21205 USA Johns Hopkins Med Inst Baltimore MD USA 21205 ci, Baltimore, MD 21205 USA Newcastle Gen Hosp, MRC, Neurochem Pathol Unit, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England Newcastle Gen Hosp Newcastle Upon Tyne Tyne & WearEngland NE4 6BE ngland
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 2, volume: 307, anno: 2001,
pagine: 125 - 127
SICI:
0304-3940(20010713)307:2<125:NPMITS>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-SYNUCLEIN GENE; LEWY BODIES;
Keywords:
synphilin-1; Parkinson's disease; intronic; polymorphism; genetics; association study;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
11
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. Bandopadhyay et al., "No pathogenic mutations in the synphilin-1 gene in Parkinson's disease", NEUROSCI L, 307(2), 2001, pp. 125-127

Abstract

alpha -Synuclein is mutated in rare autosomal dominant forms of Parkinson's disease and is a major component of Lewy bodies and neurites. Synphilin-1, a novel protein interacts in vivo and co-localises with alpha -synuclein in Lewy bodies. We analysed the synphilin-1 gene in familial Parkinson's disease by single-strand conformation polymorphism (SSCP) and automated sequencing but found no coding mutations. However, we identified two novel intronic polymorphisms; an A/T polymorphism in intron 2, resulting in the introduction of an Alu1 site and a second GTT polymorphism in intron 4. We analysed the intron 2 polymorphism for allelic association as it was conducive torapid screening but observed no changes in frequency between Parkinson's disease cases and controls. (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 10/07/20 alle ore 09:18:42