ArticleEuropean journal of human genetics : EJHG2010
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 31 citations in OpenAlex.
- Gap junction protein gamma 2 (GJC2) gene frameshift deletion in Toy Poodles with hypomyelinating leukodystrophy resembling human Pelizaeus-Merzbacher-like disease 1.The Journal of veterinary medical science · 2026Article
- Description of Phenotypic Heterogeneity in aMolecular syndromology · 2023Article
- Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.Biomolecules · 2023Review
- Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.Iranian journal of medical sciences · 2021Article
- Lymphatic Connexins and Pannexins in Health and Disease.International journal of molecular sciences · 2021Review
- Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.Molecular biology reports · 2019Article
- New mutation of pelizaeus--merzbacher-like disease; a report from iran.Iranian journal of radiology : a quarterly journal published by the Iranian Radiological Society · 2014Article
- Gap junctions in inherited human disorders of the central nervous system.Biochimica et biophysica acta · 2012Review
- Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Article
- Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.PLoS genetics · 2011Article
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4 authors at 1 institution in 1 country.
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Abstract
Autosomal recessive mutations in the GJA12/GJC2 gene encoding the gap junction protein connexin47 (C x 47) cause a form of Pelizaeus-Merzbacher-like disease (PMLD) with hypomyelination, nystagmus, impaired psychomotor development and progressive spasticity. We investigated the functional consequences of four C x 47 missense mutations (G149S, G236R, T265A, and T398I) and one C x 47 complex mutation (A98G_V99insT) by immunoblot analysis and immunocytochemistry in transfected communication-incompetent HeLa cells and in OLI-neu cells. All studied C x 47 mutants, except G236R, generated stable proteins in transfected HeLa cells and OLI-neu cells. The mutants T265A and A98G_V99insT were retained in the ER, T398I formed gap junctional plaques at the plasma membrane, and G149S showed both, structures at the plasma membrane and ER localization. Two-microelectrode voltage clamp analyses in Xenopus laevis oocytes injected with wild-type and mutant C x 47 cRNA revealed reduced hemichannel currents for G236R, T265A, and A98G_V99insT. In contrast, T398I revealed hemichannel currents comparable to wild-type. For C x 47 mutant T398I, our results indicate a defect in hemichannel function, whereas C x 47 mutants G149S, G236R, T265A, and A98G_V99insT are predicted to result in a loss of C x 47 hemichannel function. Thus, PMLD is likely to be caused by two different disease mechanisms: a loss of function and a dysfunction.
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