Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction

Autosomal recessive mutations in the GJA12/GJC2 gene encoding the gap junction protein connexin47 (C × 47) cause a form of Pelizaeus–Merzbacher-like disease (PMLD) with hypomyelination, nystagmus, impaired psychomotor development and progressive spasticity. We investigated the functional consequence...

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Bibliografiska uppgifter
Huvudupphovsmän: Diekmann, Simone, Henneke, Marco, Burckhardt, Birgitta C, Gärtner, Jutta
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2010
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987409/
https://ncbi.nlm.nih.gov/pubmed/20442743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.61
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