Early-onset Parkinson's disease due to PINK1 p.Q456X mutation - clinical and functional study

BACKGROUND: Recessive mutations in the PTEN-induced putative kinase 1 (PINK1) gene cause early-onset Parkinson's disease (EOPD). The clinical phenotype of families that have this PINK1-associated disease may present with different symptoms, including typical PD. The loss of the PINK1 protein ma...

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Pubblicato in:Parkinsonism Relat Disord
Autori principali: Siuda, Joanna, Jasinska-Myga, Barbara, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Fiesel, Fabienne C., Moussaud-Lamodière, Elisabeth L., Scarffe, Leslie A., Dawson, Valina L., Ross, Owen A., Springer, Wolfdieter, Dawson, Ted M., Wszolek, Zbigniew K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4253017/
https://ncbi.nlm.nih.gov/pubmed/25226871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2014.08.019
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