Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis

Neurogenetics

Volumn 8, Issue 2, 2007, Pages 103-109

  Grünewald, Anne ^a   Breedveld, Guido J ^b   Lohmann Hedrich, Katja ^a   Rohé, Christan F ^b   König, Inke R ^a   Hagenah, Johann ^a   Vanacore, Nicola ^c   Meco, Giuseppe ^d   Antonini, Angelo ^e   Goldwurm, Stefano ^e   Lesage, Suzanne ^f   Dürr, Alexandra ^f   Binkofski, Ferdinand ^a   Siebner, Hartwig ^g,h   Münchau, Alexander ^h   Brice, Alexis ^f   Oostra, Ben A ^b   Klein, Christine ^a   Bonifati, Vincenzo ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e PARKINSON INSTITUTE   (Italy)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g UNIVERSITY OF KIEL   (Germany)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

c.1366C>T; Heterozygous mutation; Nonsense mediated mRNA decay; PINK1; Real time PCR

Indexed keywords

COMPLEMENTARY DNA; CYCLOHEXIMIDE; GENOMIC DNA; MESSENGER RNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LYMPHOBLAST; PARKINSON DISEASE; PHENOTYPE; PINK1 GENE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; WILD TYPE; ZYGOSITY;

BASE SEQUENCE; CYTOSINE; DNA, COMPLEMENTARY; FAMILY; FEMALE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MALE; MUTATION; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN KINASES; RNA, MESSENGER; THYMINE;

EID: 33847622175     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-006-0072-y     Document Type: Article

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