Article
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.
The Journal of general physiology - 7 Jul 2025
Gong David, Orthmann-Murphy Jennifer L, Kumar Deepak, Dungan Gabriel D, El-Hattab Ayman W, Schiess Nicoline, Luo Yun L, Freidin Mona M, Abrams Charles K
Abstract excerpt
GJC2 encodes connexin 47 (Cx47), a gap junction protein expressed by oligodendrocytes that forms gap junction channels (GJCs) between adjacent oligodendrocytes (or astrocytes, via heterotypic Cx47-Cx43 GJCs). Autosomal recessive mutations of GJC2 lead to at least three central nervous system phenotypes: Pelizaeus-Merzbacher-like disease 1 (PMLD1), spastic paraparesis 44 (SPG44), and a minimal leukodystrophy....
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