渐冻人症中肌肉胆固醇转运的改变

IF 28.2 1区 医学 Q1 CLINICAL NEUROLOGY Nature Reviews Neurology Pub Date : 2024-10-14 DOI:10.1038/s41582-024-01029-8
Heather Wood
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引用次数: 0

摘要

最近发表在《脑》(Brain)杂志上的一篇论文指出,肌萎缩侧索硬化症(ALS)患者的肌肉胆固醇转运失调。在肌萎缩侧索硬化症患者的骨骼肌组织活检中,研究人员发现了溶酶体胆固醇积聚的证据,这种积聚随着疾病严重程度的增加而增加,并与溶酶体胆固醇转运体基因NPC1和NPC2的过度表达有关。在ALS相关突变的无症状携带者的肌肉样本中,NPC2 mRNA水平也有所升高,这表明胆固醇转运失调发生在疾病的早期,可能是一个新的治疗靶点。
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Altered muscle cholesterol transport in ALS
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来源期刊
Nature Reviews Neurology
Nature Reviews Neurology 医学-临床神经学
CiteScore
29.90
自引率
0.80%
发文量
138
审稿时长
6-12 weeks
期刊介绍: Nature Reviews Neurology aims to be the premier source of reviews and commentaries for the scientific and clinical communities we serve. We want to provide an unparalleled service to authors, referees, and readers, and we work hard to maximize the usefulness and impact of each article. The journal publishes Research Highlights, Comments, News & Views, Reviews, Consensus Statements, and Perspectives relevant to researchers and clinicians working in the field of neurology. Our broad scope ensures that the work we publish reaches the widest possible audience. Our articles are authoritative, accessible, and enhanced with clearly understandable figures, tables, and other display items. This page gives more detail about the aims and scope of the journal.
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