Parkinson disease UCHL-1 gene mutations 4p14 (Q95983)

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Mutations in ubiquitin carboxyterminal hydrolase L1 (UCHL-1) lead to dysfunction of the ubiquitin proteasome system. It has been hypothesized that UCHL-1 gene mutations on chromosome 4p14 may contribute to the etiology of Parkinson's disease due to reduced removal of synuclein by proteasomes.
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    Parkinson disease UCHL-1 gene mutations 4p14
    Mutations in ubiquitin carboxyterminal hydrolase L1 (UCHL-1) lead to dysfunction of the ubiquitin proteasome system. It has been hypothesized that UCHL-1 gene mutations on chromosome 4p14 may contribute to the etiology of Parkinson's disease due to reduced removal of synuclein by proteasomes.

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      CID11:ID_1067231592
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