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Here the authors show that a homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters the accessibility of variant-distal methylation sites in EPRS1 mRNA, revealing a new RNA-dependent mechanism by which genetic variants can influence gene expression and disease.
The analysis of autopsy material from individuals with multiple sclerosis with single-cell transcriptomics and 14C carbon dating calls for a reevaluation of mature oligodendrocytes in myelin repair.