Protein loss was also observed in tissue samples with missense variants, but did not reach statistical significance; (3) hypomyelination was confirmed at the ultrastructural level in regions with increased oligodendroglial cell densities; (4) hypomyelination patterns were reduced in older individuals with MOGHE, as indicated by Nissl-LFB staining.
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Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter.
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