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Inversely proportional myelin growth due to altered <i>Pmp22</i> gene dosage identifies PI3K/Akt/mTOR signaling as a novel therapeutic target in HNPP

2021-11-08

Abstract excerpt

Duplication of the gene encoding the myelin protein PMP22 causes the hereditary neuropathy Charcot-Marie-Tooth disease 1A (CMT1A), characterized by hypomyelination of medium to large caliber peripheral axons. Conversely, haplo-insufficiency of PMP22 leads to focal myelin overgrowth in hereditary neuropathy with liability to pressure palsies (HNPP). However, the molecular mechanisms of myelin growth regulation by...

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Literature Corpus work: 8020c179-3604-5488-98ac-648292305514
DOI: 10.1101/2021.11.08.467756

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