L10p and P158DEL DJ-1 mutations cause protein instability, aggregation, and dimerization impairments.

Abstract excerpt

A variety of mutations in the gene encoding DJ-1 protein cause autosomal recessive early-onset parkinsonism. Recently, a novel pathogenic homozygous DJ-1 missense mutation resulting in the L10P amino acid substitution was reported. In a separate study, a novel homozygous mutation resulting in the deletion of DJ-1 residue P158 was also reported to be causative of disease. The specific effects of the novel L10P and...

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