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 / endescription / 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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Concluído
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Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank
 
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15 August 2026
Timestamp+2026-08-15T00:00:00Z
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CalendarGregorian
Precision1 day
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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.
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ID_1067231592
    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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