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Article

Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.

The Journal of biological chemistry - 20 Feb 2004

Görner Karin, Holtorf Eve, Odoy Sabine, Nuscher Brigitte, Yamamoto Ayako, Regula Jörg T, Beyer Klaus, Haass Christian, Kahle Philipp J

Abstract excerpt

Mutations in the PARK7/DJ-1 gene cause autosomal-recessive Parkinson's disease. In some patients the gene is deleted. The molecular basis of disease in patients with point mutations is less obvious. We have investigated the molecular properties of [L166P]DJ-1 and the novel variant [E64D]DJ-1. When transfected into non-neuronal and neuronal cell lines, steady-state expression levels of [L166P]DJ-1 were...

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Source

Identifiers

PMID: 14607841
DOI: 10.1074/jbc.M309204200

Genes

PARK7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.PMID 14607841Read ↗

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Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function.Semantic proximity Read ↗

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