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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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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2010
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| 主題: | |
| オンライン･アクセス: | 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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