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A missense mutation (L166P) in DJ‐1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo‐oligomerization

1 Dec 2003

Abstract excerpt

The identification of genetic mutations responsible for rare familial forms of Parkinson's disease (PD) have provided tremendous insight into the molecular pathogenesis of this disorder. Mutations in the DJ-1 gene cause autosomal recessive early onset PD in two European families. A Dutch kindred displays a large homozygous genomic deletion encompassing exons 1-5 of the DJ-1 gene, whereas an Italian kindred...

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PMID: 14713311
DOI: 10.1111/j.1471-4159.2003.02265.x

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A missense mutation (L166P) in DJ‐1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo‐oligomerizationPMID 14713311Read ↗

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The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease.Semantic proximity Read ↗

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Crystal structure of DJ‐1/RS and implication on familial Parkinson's disease1Semantic proximity Read ↗

BAG1 restores formation of functional DJ-1 L166P dimers and DJ-1 chaperone activitySemantic proximity Read ↗

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