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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Annals of Clinical and Translational Neurology ( IF 4.4 ) Pub Date : 2019-12-12 , DOI: 10.1002/acn3.50965
Hongge Wang 1 , Matthew Davison 1 , Kathryn Wang 1 , Tai-He Xia 1 , Martin Kramer 1 , Katherine Call 1 , Jun Luo 2 , Xingyao Wu 3 , Riccardo Zuccarino 3 , Chelsea Bacon 3 , Yunhong Bai 3 , John J Moran 4 , Laurie Gutmann 3 , Shawna M E Feely 3 , Tiffany Grider 3 , Alexander M Rossor 5 , Mary M Reilly 5 , John Svaren 4 , Michael E Shy 3
Affiliation  

Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518–3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.

中文翻译:


跨膜蛋白酶丝氨酸 5:CMT1A 的新型雪旺细胞血浆标记物。



腓骨肌萎缩症 (CMT) 生物标志物的开发对于实施有效的临床试验至关重要。 CMT 最常见的形式是 1A 型,是由 PMP22 基因周围的基因组重复引起的。最近的一份报告 (Neurology 2018;90:e518–3524) 显示 CMT1A 疾病患者血浆中神经丝光 (NfL) 升高,这与疾病严重程度相关。然而,尚未鉴定出针对雪旺细胞(CMT1A 中最直接受影响的细胞)的血浆/血清生物标志物。
更新日期:2019-12-12
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