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Titolo:
Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
Autore:
Hutton, M;
Indirizzi:
Mayo Clin Jacksonville, Jacksonville, FL 32224 USA Mayo Clin JacksonvilleJacksonville FL USA 32224 cksonville, FL 32224 USA
Titolo Testata:
NEUROLOGY
fascicolo: 11, volume: 56, anno: 2001, supplemento:, 4
pagine: S21 - S25
SICI:
0028-3878(2001)56:11<S21:MASSMI>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE SUPRANUCLEAR PALSY; INHERITED DEMENTIA FTDP-17; FRONTOTEMPORAL DEMENTIA; PROTEIN-TAU; PRESENILE-DEMENTIA; SYSTEM TAUOPATHY; GENE; CHROMOSOME-17; PARKINSONISM; FILAMENTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Hutton, M Mayo Clin Jacksonville, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin Jacksonville 4500 San Pablo Rd Jacksonville FL USA 32224
Citazione:
M. Hutton, "Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms", NEUROLOGY, 56(11), 2001, pp. S21-S25

Abstract

Recent identification of mutations in the gene encoding the microtubule-associated protein tau in the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has demonstrated that tau dysfunctioncan lead to neurodegeneration. At least nine missense mutations and one deletion mutation (Delta K280) have been identified in exons 9 through 13 that encode the microtubule-binding domains of tau. In addition, five mutations have been found close to the 5 ' splice site of exon 10. The FTDP-17 missense and splice site mutations have multiple effects on the biology and function of tau. It is likely that these varied pathogenic mechanisms explain the wide range oi. clinical and neuropathologic features observed in the FTDP-17 tauopathies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/20 alle ore 12:38:39