Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.,Journal of Molecular Biology

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Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Journal of Molecular Biology ( IF 4.7 ) Pub Date : 2020-03-05 , DOI: 10.1016/j.jmb.2020.02.033
Frédéric Darios ₁ , Giovanni Stevanin ₂

Affiliation

Rare genetic diseases affect a limited number of patients, but their etiology is often known, facilitating the development of reliable animal models and giving the opportunity to investigate physiopathology. Lysosomal storage disorders are a group of rare diseases due to primary alteration of lysosome function. These diseases are often associated with neurological symptoms, which highlighted the importance of lysosome in neurodegeneration. Likewise, other groups of rare neurodegenerative diseases also present lysosomal alteration. Lysosomes fuse with autophagosomes and endosomes to allow the degradation of their content thanks to hydrolytic enzymes. It has emerged that alteration of the autophagy-lysosome pathway could play a critical role in neuronal death in many neurodegenerative diseases. Using a repertoire of selected rare neurodegenerative diseases, we highlight that a variety of alterations of the autophagy-lysosome pathway are associated with neuronal death. Yet, in most cases, it is still unclear why alteration of this pathway can lead to neurodegeneration.

中文翻译：

罕见神经退行性疾病中溶酶体功能和自噬的损害。

罕见的遗传病影响的患者数量有限，但其病因通常是已知的，这有助于开发可靠的动物模型并提供研究病理生理学的机会。溶酶体贮积症是一组由于溶酶体功能的原发性改变引起的罕见疾病。这些疾病通常与神经系统症状有关，这突出了溶酶体在神经变性中的重要性。同样，其他罕见的神经退行性疾病也存在溶酶体改变。由于水解酶，溶酶体与自噬体和内体融合，以允许其内容物降解。已经发现，自噬-溶酶体途径的改变可能在许多神经退行性疾病的神经元死亡中发挥关键作用。我们使用一系列精选的罕见神经退行性疾病，强调自噬 - 溶酶体途径的各种改变与神经元死亡有关。然而，在大多数情况下，仍不清楚为什么改变这条通路会导致神经变性。

更新日期：2020-03-05

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