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Article

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

Molecular and cellular neurosciences - 1 May 2022

Flores-Obando Rafael E, Freidin Mona M, Hernández A Iván, Abrams Charles K

Abstract excerpt

Pelizaeus-Merzbacher-like disease type 1 (PMLD1) is a hypomyelinating disorder arising in patients with mutations in GJC2, encoding Connexin47 (Cx47). PMLD1 causes nystagmus, cerebellar ataxia, spasticity and changes in CNS white matter detected by MRI. At least one mutation (p.I33M) yields a much milder phenotype, spastic paraplegia type 44 (SPG44). Cx47 contributes to gap junction communication channels between...

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PMID: 35276347
DOI: 10.1016/j.mcn.2022.103716

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