A missense mutation in human INSC causes peripheral neuropathy

A missense mutation in human INSC causes peripheral neuropathy

Abstract PAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot–Marie-Tooth diseas...

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Bibliographic Details
Main Authors: Jui-Yu Yeh, Hua-Chuan Chao, Cheng-Li Hong, Yu-Chien Hung, Fei-Yang Tzou, Cheng-Tsung Hsiao, Jeng-Lin Li, Wen-Jie Chen, Cheng-Ta Chou, Yu-Shuen Tsai, Yi-Chu Liao, Yu-Chun Lin, Suewei Lin, Shu-Yi Huang, Marina Kennerson, Yi-Chung Lee, Chih-Chiang Chan
Format: Article
Language:English
Published: Springer Nature 2024-04-01
Series:EMBO Molecular Medicine
Subjects:
Charcot–Marie–Tooth Neuropathy Type 2
Inscuteable
Microtubule-Stabilizing Agents
Necrosis
Proprioception
Online Access:https://doi.org/10.1038/s44321-024-00062-w

Internet

https://doi.org/10.1038/s44321-024-00062-w

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