Publications

Abrams CK. Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47. Biomolecules. 2023 Apr 21;13(4):712. PMID: 37189458.

Delmar M et al. Connexins and Disease.Cold Spring Harb Perspect Biol. 2018 Sep 4;10(9):a029348. PMID: 28778872.

PMLD1
Nahhas N et al. Pelizaeus-Merzbacher-Like Disease 1. 2017 Dec 21 [Updated 2019 Jan 17]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. PMID: 29276893.

Biancheri, R et al. Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.Eur J Hum Genet. 2013 Jan;21(1):34-9. PMID: 22669416.

Bugiani, M et al. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 2006 Jul 25;67(2):273-9. PMID: 16707726.

Diekmann S et al. Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.Eur J Hum Genet. 2010 Sep;18(9):985-92. PMID: 20442743.

Gotoh, L et al. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Mol Genet Metab. 2014 Mar;111(3):393-398. Erratum in: Mol Genet Metab. 2016 Nov;119(3):293. PMID: 24374284.

Henneke, M et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008 Mar 4;70(10):748-54. PMID: 18094336.

Henneke, M et al. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. Neurology 2010 Jun 1;74(22):1785-9. PMID: 20513814.

Menichella DM et al. Connexins are critical for normal myelination in the CNS. J Neurosci. 2003 Jul 2;23(13):5963-73. PMID: 12843301.

Salviati, L et al. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.Neurogenetics 2007 Jan;8(1):57-60. PMID: 17031678.

Uhlenberg, B et al. Mutations in the gene encoding gap junction protein alpha-12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.Am J Hum Genet. 2004 Aug;75(2):251-60. Erratum in: Am J Hum Genet. 2004 Oct;5(4):737. PMID: 15192806.

Wolf, N et al. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics 2007 Jan;8(1):39-44. PMID: 16969684.

SPG44
Orthmann-Murphy, JL et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 2009 Feb;132(Pt 2):426-38. PMID: 19056803.

LMPH1C
Ferrell, RE et al. GJC2 missense mutations cause human lymphedema.Am J Hum Genet. 2010 Jun 11;86(6):943-8. PMID: 20537300.

Ostergaard, P et al. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. J Med Genet. 2011 Apr;48(4):251-5. PMID: 21266381.