Gap junction gamma-2 Protein

Uhlenberg B et al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Wolf NI et al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Salviati L et al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Henneke M et al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Biancheri R et al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Gotoh L et al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Ferrell RE et al. (2010) GJC2 missense mutations cause human lymphedema.

Ostergaard P et al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Orthmann-Murphy JL et al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Nezu A et al. () Pelizaeus-Merzbacher-like disease: female case report.

Odermatt B et al. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

Menichella DM et al. (2003) Connexins are critical for normal myelination in the CNS.

Orthmann-Murphy JL et al. (2007) Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

Diekmann S et al. (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Osaka H et al. (2010) Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Combes P et al. (2012) Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

Orphanet article

NCBI article

OMIM.ORG article