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[Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease]
Kazuhiro Kashiwagi1, Takuhiro Ito, Shigeyuki Yokoyama
1RIKEN Center for Life Science Technologies.
Brain and Nerve = Shinkei Kenkyu No Shinpo
|January 28, 2017
Abstract:
CACH/VWM (childhood ataxia with central nervous system hypomyelination/vanishing white matter) disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B (eIF2B), but its etiology is poorly understood. Here, we attempt to provide an explanation for the pathogenic mechanism of this disease, based on the crystal structure of eIF2B.
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