Therapeutic suppression of proteolipid protein rescues Pelizaeus-Merzbacher Disease in mice

Abstract excerpt

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 a...

Topics

Open a Topic to create a Post that cites this publication.

• Gene Duplication
• Genes, Recessive
• Myelin Proteolipid Protein
• Myelin Sheath
• Pelizaeus-Merzbacher Disease
• Sequence Deletion
• Spastic Paraplegia, Hereditary
• X Chromosome

Identifiers and source

Literature Corpus work

fccdd0ab-33db-5fc9-88b3-620300681017

DOI

10.1101/508192