Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.

doi:10.1093/hmg/ddab033

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Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.

Human molecular genetics - 27 Apr 2021

Lee Yu-Ri, Kim Se Hee, Ben-Mahmoud Afif, Kim Oc-Hee, Choi Tae-Ik, Lee Kang-Han, Ku Bonsu, Eum Juneyong, Kee Yun, Lee Sangkyu, Cha Jihoon, Won DongJu, Lee Seung-Tae, Choi Jong Rak, Lee Joon Soo, Kim Heung Dong, Kim Hyung-Goo, Bonkowsky Joshua L, Kang Hoon-Chul, Kim Cheol-Hee

Abstract excerpt

Leukodystrophy with vanishing white matter (VWM), also called Childhood Ataxia with Central Nervous System Hypomyelination, is caused by mutations in the subunits of the eukaryotic translation initiation factor, EIF2B1, EIF2B2, EIF2B3, EIF2B4 or EIF2B5. However, little is known regarding the underlying pathogenetic mechanisms, and there is no curative treatment for VWM. In this study, we established the first...

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PMID: 33517449
DOI: 10.1093/hmg/ddab033

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