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Titolo:
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions
Autore:
Lebre, AS; Jamot, L; Takahashi, J; Spassky, N; Leprince, C; Ravise, N; Zander, C; Fujigasaki, H; Kussel-Andermann, P; Duyckaerts, C; Camonis, JH; Brice, A;
Indirizzi:
Hop La Pitie Salpetriere, INSERM, U289, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 U289, F-75651 Paris 13, France Hop La Pitie Salpetriere, Lab Neuropathol R Escourolle, F-75651 Paris, France Hop La Pitie Salpetriere Paris France F-75651 lle, F-75651 Paris, France Hop La Pitie Salpetriere, INSERM, U495, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 U495, F-75651 Paris 13, France CNRS, URA 1968, Inst Pasteur, Paris, France CNRS Paris FranceCNRS, URA 1968, Inst Pasteur, Paris, France INSERM, U528, Inst Curie, Paris, France INSERM Paris FranceINSERM, U528, Inst Curie, Paris, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 11, volume: 10, anno: 2001,
pagine: 1201 - 1213
SICI:
0964-6906(20010515)10:11<1201:AIWACP>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
BINDING-PROTEIN; HEAT-SHOCK; POLYGLUTAMINE DISEASES; CEREBELLAR-ATAXIA; C-CBL; HUNTINGTIN; BRAIN; NEURODEGENERATION; LOCALIZATION; UBIQUITIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Brice, A Hop La Pitie Salpetriere, INSERM, U289, 47 Blvd Hop, F-75651 Paris 13, France Hop La Pitie Salpetriere 47 Blvd Hop Paris France 13 13, France
Citazione:
A.S. Lebre et al., "Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions", HUM MOL GEN, 10(11), 2001, pp. 1201-1213

Abstract

Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disease caused by expansion of a CAG repeat in the coding region of the SCA7 gene. The diseaseprimarily affects the cerebellum and the retina, but also many other central nervous system (CNS) structures as the disease progresses. Ataxin-7, encoded by the SCA7 gene, is a protein of unknown function expressed in many tissues including the CNS, In normal brain, ataxin-7 is found in the cytoplasm and/or nucleus of neurons, but in SCA7 brain ataxin-7 accumulates in intranuclear inclusions. Ataxin-7 is expressed ubiquitously, but mutation leads to neuronal death in only certain areas of the brain. This selective pattern of degeneration might be explained by interaction with a partner that is specifically expressed in vulnerable cells. We used a two-hybrid approachto screen a human retina cDNA library for ataxin-7-binding proteins, and isolated R85, a splice variant of Cbl-associated protein (CAP), R85 and CAP are generated by alternative splicing of the gene SH3P12 which we localizedon chromosome 10q23-q24, The interaction between ataxin-7 and the SH3P12 gene products (SH3P12GPs) was confirmed by pull-down and coimmunoprecipitation. SH3P12GPs are expressed in Purkinje cells in the cerebellum. Ataxin-7 colocalizes with full-length R85 (R85FL) in co-transfected Cos-7 cells and with one of the SH3P12GPs in neuronal intranuclear inclusions in brain from a SCA7 patient. We propose that this interaction is part of a physiologicalpathway related to the function or turnover of ataxin-7, Its role in the pathophysiological process of SCA7 disease is discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 11:29:06