Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

• Published in: Annals of clinical and translational neurology Vol. 7; no. 1; pp. 69 - 82
• Main Authors: Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai‐He, Kramer, Martin, Call, Katherine, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Moran, John J., Gutmann, Laurie, Feely, Shawna M. E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Svaren, John, Shy, Michael E.
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.01.2020; John Wiley and Sons Inc; Wiley
• Subjects: Adult; Age; Animals; Biomarkers; Biomarkers - blood; Cells, Cultured; Charcot-Marie-Tooth Disease - blood; Charcot-Marie-Tooth Disease - diagnosis; Charcot-Marie-Tooth Disease - physiopathology; Clinical trials; Cohort Studies; Diagnosis, Differential; Disease; Female; Humans; Male; Membrane Proteins - blood; Middle Aged; Mitochondrial Proteins - blood; Mutation; Neural Conduction - physiology; Neurology; Neuromuscular diseases; Patients; Polymerase Chain Reaction; Proteins; Rats; Schwann Cells; Serine Endopeptidases - blood

Objective 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 neu...