Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.

Bong Jik KimTakehiko UeyamaTakushi MiyoshiSeungmin LeeJin Hee HanHye-Rim ParkAh Reum KimJayoung OhMin Young KimYong Seok KangDoo Yi OhJiwon YunSang Mee HwangNayoung K D KimWoong-Yang ParkShin-Ichiro KitajiriByung Yoon Choi

Published in: Journal of medical genetics (2019)

Here, we report the first mutant in the DID of humans with only hearing loss. The differential cell biological phenotypes of DIA1 during cell division appear to be potential determinants of the clinical severity of DIAPH1-related cytoskeletopathy in humans.

Keyphrases

single cell
cell therapy
stem cells
bone marrow
pluripotent stem cells