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Titolo:
INACTIVATION OF THE MOUSE HUNTINGTONS-DISEASE GENE HOMOLOG HDH
Autore:
DUYAO MP; AUERBACH AB; RYAN A; PERSICHETTI F; BARNES GT; MCNEIL SM; GE P; VONSATTEL JP; GUSELLA JF; JOYNER AL; MACDONALD ME;
Indirizzi:
MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT BOSTON MA 02129 MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT BOSTON MA 02129 MT SINAI HOSP,DIV MOLEC & DEV BIOL TORONTO ON M5G 1X5 CANADA MASSACHUSETTS GEN HOSP,MOLEC NEUROPATHOL LAB BOSTON MA 02129
Titolo Testata:
Science
fascicolo: 5222, volume: 269, anno: 1995,
pagine: 407 - 410
SICI:
0036-8075(1995)269:5222<407:IOTMHG>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; EXPRESSION; FMR-1; CELLS; MICE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
M.P. Duyao et al., "INACTIVATION OF THE MOUSE HUNTINGTONS-DISEASE GENE HOMOLOG HDH", Science, 269(5222), 1995, pp. 407-410

Abstract

Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To distinguish between ''loss of function'' and ''gain of function'' models of HD, the murine HD homolog Hdh wasinactivated by gene targeting. Mice heterozygous for Hdh inactivationwere phenotypically normal, whereas homozygosity resulted in embryonic death. Homozygotes displayed abnormal gastrulation at embryonic day 7.5 and were resorbing by day 8.5. Thus, huntingtin is critical early in embryonic development, before the emergence of the nervous system. That Hdh inactivation does not mimic adult HD neuropathology suggests that the human disease involves a gain of function.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 08:36:43