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Article

Calcineurin Activity Is Increased in Charcot-Marie-Tooth 1B Demyelinating Neuropathy.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 19 May 2021

Sidoli Mariapaola, Reed Chelsey B, Scapin Cristina, Paez Pablo, Cavener Douglas R, Kaufman Randal J, D'Antonio Maurizio, Feltri M Laura, Wrabetz Lawrence

Abstract excerpt

Schwann cells produce a considerable amount of lipids and proteins to form myelin in the PNS. For this reason, the quality control of myelin proteins is crucial to ensure proper myelin synthesis. Deletion of serine 63 from P0 (P0S63del) protein in myelin forming Schwann cells causes Charcot-Marie-Tooth type 1B neuropathy in humans and mice. Misfolded P0S63del accumulates in the ER of Schwann cells where it...

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Identifiers

PMID: 33879538
DOI: 10.1523/JNEUROSCI.2384-20.2021
PMCID: PMC8152608

Genes

EGR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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