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GJC2 gene

Known as: CONNEXIN 46.6, SPG44, GAP JUNCTION PROTEIN, 47-KD 
National Institutes of Health

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GJB3 gene

Papers overview

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2020
2020
Oligodendroglial connexin 47 regulates neuroinflammation upon autoimmune demyelination in a novel mouse model of multiple sclerosis
Significance In multiple sclerosis plaques, oligodendroglial connexin (Cx) 47 constituting main gap junction channels with… 
2014
2014
A new mutation in GJC2 associated with subclinical leukodystrophy
Recessive mutations in GJC2, the gene-encoding connexin 47 (Cx47), cause Pelizaeus–Merzbacher-like disease type 1, a severe… 
Highly Cited
2012
Highly Cited
2012
Extensive loss of connexins in Baló’s disease: evidence for an auto-antibody-independent astrocytopathy via impaired astrocyte–oligodendrocyte/myelin interaction
Extensive aquaporin-4 (AQP4) loss without perivascular deposition of either activated complement or immunoglobulins is a… 
2011
2011
Connexin26 expression in brain parenchymal cells demonstrated by targeted connexin ablation in transgenic mice
Astrocytes are known to express the gap junction forming proteins connexin30 (Cx30) and connexin43 (Cx43), but it has remained… 
Highly Cited
2008
Highly Cited
2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Highly Cited
2008
Highly Cited
2008
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
Background: Pelizaeus-Merzbacher-like disease (PMLD) is a genetically heterogeneous disorder within the group of hypomyelinating… 
Highly Cited
2008
Highly Cited
2008
Ablation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte–astrocyte gap junctions
Oligodendrocytes in CNS are linked to astrocytes by heterotypic gap junctions composed of Cx32 and Cx47 in oligodendrocytes and… 
Highly Cited
2006
Highly Cited
2006
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy
Background: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early… 
Highly Cited
2004
Highly Cited
2004
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are… 
Highly Cited
2004
Highly Cited
2004
Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and cx47 association with zonula occludens-1 (zo-1) in mouse brain
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