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Article

Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.

ASN neuro - 1 Jan 2000

Musner Nicolò, Sidoli Mariapaola, Zambroni Desireè, Del Carro Ubaldo, Ungaro Daniela, D'Antonio Maurizio, Feltri Maria L, Wrabetz Lawrence

Abstract excerpt

In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot-Marie-Tooth disease type 1B (CMT1B)-S63del mice. Accumulation of P0S63del in the...

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Identifiers

PMID: 27095827
DOI: 10.1177/1759091416642351
PMCID: PMC4844932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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