New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B (Articolo in rivista)

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  • New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B (Articolo in rivista) (literal)
Anno
  • 2002-01-01T00:00:00+01:00 (literal)
Alternative label
  • Di Giaimo R.1, Riccio M.2, Santi S.2, Galeotti C.3, Ambrosetti D.C.1, Melli M.1 (2002)
    New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
    in Human molecular genetics (Print)
    (literal)
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  • Di Giaimo R.1, Riccio M.2, Santi S.2, Galeotti C.3, Ambrosetti D.C.1, Melli M.1 (literal)
Pagina inizio
  • 2941 (literal)
Pagina fine
  • 2950 (literal)
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  • Lavoro multidisciplinare con implicazioni cliniche I.F. 9,318 (literal)
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  • 11 (literal)
Rivista
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  • I.F. 9,318 (literal)
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  • Cystatin B is an anti-proteolytic polypeptide implicated in progressive myoclonus epilepsy (EPM1), a degenerative disease of the central nervous system. The knock-out mouse model of the disease shows apoptosis of the cerebellar granule cells. We have identified five recombinant proteins interacting with cystatin B and none of them is a protease. We show that three of these proteins (RACK-1, beta-spectrin and NF-L) co- immunoprecipitate with cystatin B in rat cerebellum. Confocal immunofluorescence analysis shows that the same proteins are present in the granule cells of developing cerebellum, as well as in Purkinje cells of adult rat cerebellum. We propose that a cystatin B multiprotein complex has a specific cerebellar function and that the loss of this function might contribute to the disease in EPM1 patients. (literal)
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  • ISI Web of Science (WOS) (literal)
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  • 1Dipartimento di Biologia - Uni. Bologna 2Istituto di Citomorfologia Normale e Patologica - CNR 3Chiron vaccines - Siena (literal)
Titolo
  • New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B (literal)
Abstract
  • Cystatin B is an anti-proteolytic polypeptide implicated in progressive myoclonus epilepsy (EPM1), a degenerative disease of the central nervous system. The knock-out mouse model of the disease shows apoptosis of the cerebellar granule cells. We have identified five recombinant proteins interacting with cystatin B and none of them is a protease. We show that three of these proteins (RACK-1, beta-spectrin and NF-L) co- immunoprecipitate with cystatin B in rat cerebellum. Confocal immunofluorescence analysis shows that the same proteins are present in the granule cells of developing cerebellum, as well as in Purkinje cells of adult rat cerebellum. We propose that a cystatin B multiprotein complex has a specific cerebellar function and that the loss of this function might contribute to the disease in EPM1 patients. (literal)
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