Article
TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A.
Brain : a journal of neurology - 1 Sept 2023
Jeon Hyeonjin, Jang So Young, Kwak Geon, Yi Yong Weon, You Mi-Hyeon, Park Na Young, Jo Ju Hee, Yang Ji Won, Jang Hye Ji, Jeong Sun-Young, Moon Seung Kee, Doo Hyun Myung, Nahm Minyeop, Kim Donghoon, Chang Jong Wook, Choi Byung-Ok, Hong Young Bin
Abstract excerpt
The duplication of the peripheral myelin protein 22 (PMP22) gene causes a demyelinating type of neuropathy, commonly known as Charcot-Marie-Tooth disease type 1A (CMT1A). Development of effective drugs for CMT1A still remains as an unmet medical need. In the present study, we assessed the role of the transforming growth factor beta 4 (TGFβ4)/Nodal axis in the pathogenesis of CMT1A. First, we identified PMP22...
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