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Titolo:
Dysregulation of human brain microtubule-associated tau mRNA maturation inmyotonic dystrophy type 1
Autore:
Sergeant, N; Sablonniere, B; Schraen-Maschke, S; Ghestem, A; Maurage, CA; Wattez, A; Vermersch, P; Delacourte, A;
Indirizzi:
INSERM, U422, Grp VCDN, F-59045 Lille, France INSERM Lille France F-59045 NSERM, U422, Grp VCDN, F-59045 Lille, France CHRU, Serv Anat & Cytol Pathol A, Lille, France CHRU Lille FranceCHRU, Serv Anat & Cytol Pathol A, Lille, France Hop Roger Salengro, CHRU, Serv Neurol C, Lille, France Hop Roger SalengroLille France gro, CHRU, Serv Neurol C, Lille, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 19, volume: 10, anno: 2001,
pagine: 2143 - 2155
SICI:
0964-6906(20010915)10:19<2143:DOHBMT>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
PAIRED HELICAL FILAMENTS; PROGRESSIVE SUPRANUCLEAR PALSY; ALZHEIMERS-DISEASE; PROTEIN-TAU; CTG REPEAT; NEUROFIBRILLARY DEGENERATION; TRIPLET REPEAT; PICKS-DISEASE; MESSENGER-RNA; FRONTOTEMPORAL DEMENTIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
82
Recensione:
Indirizzi per estratti:
Indirizzo: Delacourte, A INSERM, U422, Grp VCDN, 1 Pl Verdun, F-59045 Lille, France INSERM 1 Pl Verdun Lille France F-59045 59045 Lille, France
Citazione:
N. Sergeant et al., "Dysregulation of human brain microtubule-associated tau mRNA maturation inmyotonic dystrophy type 1", HUM MOL GEN, 10(19), 2001, pp. 2143-2155

Abstract

Intraneuronal aggregates of hyperphosphorylated tau proteins, referred to as pathological tau, are found in brain areas of demented patients affectedby numerous different neurodegenerative disorders. We previously describeda particular biochemical profile of pathological tau proteins in myotonic dystrophy type 1 (DM1). This multisystemic disorder is characterized by an unstable CTG repeat expansion in the 3'-untranslated region of the DM protein kinase gene. In the human central nervous system, tau proteins consist of six isoforms that differ by the presence or absence of the alternatively spliced exons 2, 3 and 10. Here we show that the pattern of tau isoforms aggregated in DM1 brain lesions is characteristic. It consists mainly of the aggregation of the shortest human tau isoform. A disruption in normal tau isoform expression consisting of a reduced expression of tau isoforms containing the exon 2 was observed at both the mRNA and protein levels. Large expanded CTG repeats were detected and showed marked somatic heterogeneity between DM1 cases and in cortical brains regions analysed. Our data suggest a relationship between the CTG repeat expansion and the alteration of tau expression showing that DM1 is a peculiar tauopathy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 01:32:13