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Article

Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.

Neurobiology of disease - 1 Apr 2026

Li Heng, Mishima Reiko, Goto Yu-Ichi, Inoue Ken

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is a devastating, X-linked hypomyelinating leukodystrophy caused by mutations in a myelin gene, PLP1. While overwhelming endoplasmic reticulum (ER) stress caused by the accumulation of mutant PLP1 is widely recognized, blockade of the apoptotic arm of the unfolded protein response (UPR) failed to rescue the phenotypes in murine disease models, suggesting the involvement of...

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Identifiers

PMID: 41747968
DOI: 10.1016/j.nbd.2026.107329

Genes

PLP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.PMID 41747968Read ↗

Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum StressSemantic proximity Read ↗

Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived OligodendrocytesSemantic proximity Read ↗

Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.Semantic proximity Read ↗

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.Semantic proximity Read ↗

Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.Semantic proximity Read ↗

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.Semantic proximity Read ↗

Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.Semantic proximity Read ↗

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