Parkinson disease UCHL-1 gene mutations 4p14 (Q95983): Difference between revisions
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Mutações na hidrolase carboxiterminal da ubiquitina L1 (UCHL-1) levam à disfunção do sistema proteassoma da ubiquitina. Foi levantada a hipótese de que mutações no gene UCHL-1 no cromossomo 4p14 podem contribuir para a etiologia da doença de Parkinson devido à redução da remoção de sinucleína pelos proteassomas. | |||
| description / en | description / en | ||
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. | |||
Revision as of 11:49, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1067231592 |
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| English | 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. |
