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Titolo:
ANIMAL-MODEL FOR FRAGILE-X-SYNDROME
Autore:
OOSTRA BA; HOOGEVEEN AT;
Indirizzi:
ERASMUS UNIV,DEPT CLIN GENET,MGC,POB 1738 NL-3000 DR ROTTERDAM NETHERLANDS
Titolo Testata:
Annals of medicine
fascicolo: 6, volume: 29, anno: 1997,
pagine: 563 - 567
SICI:
0785-3890(1997)29:6<563:AFF>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
MENTAL-RETARDATION PROTEIN; FMR-1 GENE; RNA-BINDING; CGG-REPEAT; FULL MUTATION; KNOCKOUT MICE; LOCALIZATION; INSTABILITY; EXPRESSION; NUCLEAR;
Keywords:
FMR1 GENE; FRAGILE X SYNDROME; KNOCK-OUT MICE; MENTAL RETARDATION; RNA BINDING; TRANSGENIC MICE; TRANSPORT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
43
Recensione:
Indirizzi per estratti:
Citazione:
B.A. Oostra e A.T. Hoogeveen, "ANIMAL-MODEL FOR FRAGILE-X-SYNDROME", Annals of medicine, 29(6), 1997, pp. 563-567

Abstract

The fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by an expansion of a polymorphic CGG repeatupstream of the coding region in the FMR1 gene. The expansion blocks expression of the FMR1 gene due to methylation of the FMR1 promoter. Functional studies on the FMR1 protein have shown that the protein can bind RNA and might be involved in transport of RNAs from the nucleus to the cytoplasm. A role of FMR1 protein on translation of certain mRNAs has been suggested. An animal model for fragile X syndrome exists and these mice show some behavioural difficulties mimicking the human fragile X syndrome phenotype. This review presents what is known about the protein and what is learned from the animal model for fragile X syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 07:28:54