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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1067231592 / rank | |||||||||||||||
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CID11:ID_1067231592 | |||||||||||||||
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dki-india-ID_1067231592 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest 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. |
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CID11:ID_1067231592
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dki-india-ID_1067231592
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Concluído
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15 August 2026
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