摘要
溶酶体是负责降解和回收大分子的膜结合细胞器。溶酶体的功能性障碍主要发生在酶和非酶的不足中,这导致物质的异常积累。溶酶体的储存障碍会影响不同的器官,其中中枢神经系统是最脆弱的。数据显示了溶酶体功能障碍在不同的神经退行性疾病如C型尼曼病,少年神经元蜡样脂褐质沉积症,阿尔茨海默氏病和帕金森氏病中的作用。溶酶体酶如溶酶体酸性磷酸酶2(Acp2)在甘露糖-6-磷酸移除中发挥着关键作用,Acp2控制着发育中和成年期大脑分子和细胞的功能。Acp2小脑发育是必不可少的,基因突变会导致严重的小脑神经发育和神经退行性疾病。在这篇综述中,我们以Acp2功能障碍为出发点,强调溶酶体功能障碍在神经发育和神经退行性疾病中的发病机制。
关键词: Acp2;Acp5;神经元;神经退行性变;NaX突变体;lysosomal功能紊乱。
Current Molecular Medicine
Title:Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain
Volume: 16 Issue: 5
Author(s): N. Ashtari, X. Jiao, M. Rahimi-Balaei, S. Amiri, S. E. Mehr, B. Yeganeh, H. Marzban
Affiliation:
关键词: Acp2;Acp5;神经元;神经退行性变;NaX突变体;lysosomal功能紊乱。
摘要: Lysosomes are membrane-bound organelles that are responsible for degrading and recycling macromolecules. Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which result in abnormal accumulation of materials. Although lysosomal storage disorders affect different organs, the central nervous system is the most vulnerable. Evidence shows the role of lysosomal dysfunction in different neurodegenerative diseases, such as Niemann–Pick Type C disease, juvenile neuronal ceroid lipofuscinosis, Alzheimer’s disease and Parkinson’s disease. Lysosomal enzymes such as lysosomal acid phosphatase 2 (Acp2) play a critical role in mannose-6-phosphate removal and Acp2 controls molecular and cellular functions in the brain during development and adulthood. Acp2 is essential in cerebellar development, and mutations in this gene cause severe cerebellar neurodevelopmental and neurodegenerative disorders. In this mini-review, we highlight lysosomal dysfunctions in the pathogenesis of neurodevelopmental and/or neurodegenerative diseases with special attention to Acp2 dysfunction.
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Cite this article as:
N. Ashtari, X. Jiao, M. Rahimi-Balaei, S. Amiri, S. E. Mehr, B. Yeganeh, H. Marzban , Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain, Current Molecular Medicine 2016; 16 (5) . https://dx.doi.org/10.2174/1566524016666160429115834
DOI https://dx.doi.org/10.2174/1566524016666160429115834 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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