Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. (Articolo in rivista)

Type
Label
  • Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.parkreldis.2008.07.001 (literal)
Alternative label
  • Tarantino P, Civitelli D, Annesi F, De Marco EV, Rocca FE, Pugliese P, Nicoletti G, Carrideo S, Provenzano G, Annesi G, Quattrone A. (2009)
    Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.
    in Parkinsonism & related disorders
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Tarantino P, Civitelli D, Annesi F, De Marco EV, Rocca FE, Pugliese P, Nicoletti G, Carrideo S, Provenzano G, Annesi G, Quattrone A. (literal)
Pagina inizio
  • 324 (literal)
Pagina fine
  • 326 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 15 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. (literal)
Titolo
  • Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. (literal)
Abstract
  • In this study we analysed the DJ-1 gene in 40 sporadic patients with early onset Parkinson's disease and 100 appropriate controls, originated from southern Italy. We identified a single patient with age at onset of 38 years carrying two previously undescribed heterozygous mutations, both located in non-coding regions. The first mutation was a nucleotide change in the promoter region of the gene (g.159 C>G) and the second one was an insertion in the intron 4 splice site (IVS4+3insA). In the same patient, genomic rearrangements were excluded. No DJ-1 mutations were found in the remaining parkinsonian patients. Our results support the growing importance of mutations in non-coding portion of human genome, and confirm that alterations in DJ-1 are a cause, even if rare, of early-onset Parkinson's disease. (literal)
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