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Therapeutic suppression of proteolipid protein rescues Pelizaeus-Merzbacher Disease in mice
Mutations in proteolipid protein 1 (PLP1) result in failure of myelination and severe neurological dysfunction in the X-linked pediatric leukodystrophy Pelizaeus-Merzbacher disease (PMD). The majority of PLP1 variants, including supernumerary copies and various point mutations, lead to early mortality. However, PLP1-null patients and mice display comparatively mild phenotypes, suggesting that reduction of aberrant PLP1 expression might provide a therapeutic strategy across PMD genotypes. Heredoi:10.1101/508192 fatcat:46hpwutqfngi3k3d62q3alyomi