Causes of Parkinson’s disease: genetics of DJ-1

@article{AbouSleiman2004CausesOP,
  title={Causes of Parkinson’s disease: genetics of DJ-1},
  author={Patrick M. Abou-Sleiman and Daniel G. Healy and Nicholas W. Wood},
  journal={Cell and Tissue Research},
  year={2004},
  volume={318},
  pages={185-188}
}
The identification of Mendelian mutations in rare forms of familial Parkinson’s disease (PD) have provided significant insights into the molecular pathogenesis of this common complex disorder. DJ-1 is the third of four genes known to be definitively causal in familial PD, the three others being α-synuclein, parkin and the recently identified PINK1. Mutations in the DJ-1 gene were identified in two European families, a Dutch kindred harbouring a large homozygous genomic deletion encompassing… Expand
Role of DJ-1 in parkinson’s disease
TLDR
The function of DJ-1 is still unknown; however, it is associated with various cellular processes, including response to oxidative stress, cellular transformation, RNAbinding, androgen-receptor signaling, spermatogenesis, and fertilization. Expand
Role of DJ-1 in Parkinson's disease
TLDR
The function of DJ-1 is still unknown; however, it is associated with various cellular processes, including response to oxidative stress, cellular transformation, RNA-binding, androgen-receptor signaling, spermatogenesis, and fertilization. Expand
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Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.
TLDR
The 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. Expand
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TLDR
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TLDR
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Association of PINK 1 and DJ-1 confers digenic inheritance of early-onset Parkinson ’ s disease
Mutations in genes encoding both DJ-1 and pten-induced kinase 1 (PINK1) are independently linked to autosomal recessive early-onset familial forms of Parkinson’s disease (PD). We here reportExpand
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
TLDR
This study reports the first case of autosomal recessive PD with digenic inheritance and demonstrates that DJ-1 and PINK1 physically associate and collaborate to protect cells against stress via complex formation. Expand
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TLDR
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TLDR
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