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L10P and P158DEL DJ-1 Mutations Cause Protein Instability, Aggregation, and Dimerization Impairments

A variety of mutations in the gene encoding DJ-1 protein are causal of 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 i...

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Hlavní autoři: Ramsey, Chenere P., Giasson, Benoit I.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2943528/
https://ncbi.nlm.nih.gov/pubmed/20806408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jnr.22477
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