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Updated: Jun 30, 2025

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS
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Published on: October 6, 2015

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SQSTM1 Pro392Leu呈现为一个皮质基底综合征与渐进的非流动性失语症

Miguel Tábuas-Pereira1, Marisa Lima2, Catarina Bernardes2

  • 1Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Centre for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Portugal.

Parkinsonism & related disorders
|March 17, 2024
PubMed
概括

在SQSTM1基因中的遗传变异与皮质基综合征有关. 本案例报告突出了与SQSTM1突变相关的新型表型,扩大了这种神经退行性疾病的遗传景观.

关键词:
认知能力 认知能力 认知能力皮质皮质的基础.时间前端 - 时间前端基因基因 基因基因 基因基因基因型 基因型 基因型帕金森症 帕金森症现象型 现象型 是一种表现型.这就是SQSTM1的特点.

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相关概念视频

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Alternative RNA Splicing

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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