Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

ConclusionMutations that lead to (ultra ‐)severe disease mostly affect amino acids with pivotal roles in complex formation and function of eIF2B. Therapies for VWM are emerging and reliable mutation‐based phenotype prediction is required for propensity score matching for trials and in the future for individualized therapy decisions.

Source: Molecular Genetics & Genomic Medicine - January 12, 2021 Category: Genetics & Stem Cells Authors: Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. Esch, Chris Graaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. Knaap Tags: ORIGINAL ARTICLE Source Type: research