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Titolo:
NORMAL AND EXPANDED HUNTINGTONS-DISEASE GENE ALLELES PRODUCE DISTINGUISHABLE PROTEINS DUE TO TRANSLATION ACROSS THE CAG REPEAT
Autore:
PERSICHETTI F; AMBROSE CM; GE P; MCNEIL SM; SRINIDHI J; ANDERSON MA; JENKINS B; BARNES GT; DUYAO MP; KANALEY L; WEXLER NS; MYERS RH; BIRD ED; VONSATTEL JP; MACDONALD ME; GUSELLA JF;
Indirizzi:
MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT,BLDG 149,13TH ST BOSTON MA 02129 MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT BOSTON MA 02129 MASSACHUSETTS GEN HOSP,MOLEC NEUROPATHOL LAB BOSTON MA 02129 MCLEAN HOSP,BRAIN TISSUE RESOURCE CTR BELMONT MA 02178 HEREDITARY DIS FDN SANTA MONICA CA 00000 BOSTON UNIV,SCH MED,DEPT NEUROL BOSTON MA 02118 HARVARD UNIV,SCH MED,DEPT GENET BOSTON MA 00000
Titolo Testata:
Molecular medicine
fascicolo: 4, volume: 1, anno: 1995,
pagine: 374 - 383
SICI:
1076-1551(1995)1:4<374:NAEHGA>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
REGION; SEQUENCE; TISSUES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
F. Persichetti et al., "NORMAL AND EXPANDED HUNTINGTONS-DISEASE GENE ALLELES PRODUCE DISTINGUISHABLE PROTEINS DUE TO TRANSLATION ACROSS THE CAG REPEAT", Molecular medicine, 1(4), 1995, pp. 374-383

Abstract

Background: An expanded CAG trinudeotide repeat is the genetic trigger of neuronal degeneration in Huntington's disease (HD), but its mode of action has yet to be discovered. The sequence of the HD gene placesthe CAG repeat near the 5' end in a region where it may be translatedas a variable polyglutamine segment in the protein product, huntingtin. Materials and Methods: Antisera directed at amino acid stretches predicted by the DNA sequence upstream and downstream of the CAG repeat were used in Western blot and immunohistochemical analyses to examine huntingtin expression from the normal and the HD allele in lymphoblastoid cells and postmortem brain tissue. Results: CAG repeat segments ofboth normal and expanded IID alleles are indeed translated, as part of a discrete similar to 350-kD protein that is found primarily in the cytosol. The difference in the length of the N-terminal polyglutamine segment is sufficient to distinguish normal and HD huntingtin in a Western blot assay. Conclusions: The HD mutation does not eliminate expression of the HD gene but instead produces an altered protein with an expanded polyglutamine stretch near the N terminus. Thus, HD pathogenesis is probably triggered by an effect at the level of huntingtin protein.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 14:08:24