Article
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics - 1 Apr 2007
Grünewald Anne, Breedveld Guido J, Lohmann-Hedrich Katja, Rohé Christan F, König Inke R, Hagenah Johann, Vanacore Nicola, Meco Giuseppe, Antonini Angelo, Goldwurm Stefano, Lesage Suzanne, Dürr Alexandra, Binkofski Ferdinand, Siebner Hartwig, Münchau Alexander, Brice Alexis, Oostra Ben A, Klein Christine, Bonifati Vincenzo
Abstract excerpt
PINK1 gene mutations are a cause of recessively inherited, early-onset Parkinson's disease. In some patients, a single heterozygous mutation has been identified, including the recurrent c.1366C>T transition. The interpretation of this finding remains controversial. Furthermore, the c.1366C>T mutation is associated with lower levels of PINK1 transcript, raising the question of whether mRNA levels correlate with...
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