Article
Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.
Disease models & mechanisms - 1 Oct 2021
Lee Geon Seong, Kwak Geon, Bae Ji Hyun, Han Jeong Pil, Nam Soo Hyun, Lee Jeong Hyeon, Song Sumin, Kim Gap-Don, Park Tae Sub, Choi Yang Kyu, Choi Byung-Ok, Yeom Su Cheong
Abstract excerpt
The microrchidia (MORC)-family CW-type zinc finger 2 (MORC2) gene is related to DNA repair, adipogenesis and epigenetic silencing via the human silencing hub (HUSH) complex. MORC2 missense mutation is known to cause peripheral neuropathy of Charcot-Marie-Tooth disease type 2 Z (CMT2Z). However, there have been reports of peripheral and central neuropathy in patients, and the disease has been co-categorized with...
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