Connexinopathies: a structural and functional glimpse.

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Published in BMC Cell Biol on May 24, 2016

Authors

Isaac E García1, Pavel Prado1, Amaury Pupo1, Oscar Jara1, Diana Rojas-Gómez1, Paula Mujica1, Carolina Flores-Muñoz1, Jorge González-Casanova1, Carolina Soto-Riveros1, Bernardo I Pinto1, Mauricio A Retamal2, Carlos González1, Agustín D Martínez3

Author Affiliations

1: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
2: Centro de Fisiología Celular e Integrativa, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
3: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile. agustin.martinez@uv.cl.

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Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol (1993) 64.61

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature (1997) 6.89

Plasma membrane channels formed by connexins: their regulation and functions. Physiol Rev (2003) 4.87

Emerging issues of connexin channels: biophysics fills the gap. Q Rev Biophys (2001) 4.76

Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J Cell Biol (1991) 4.47

Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature (2009) 4.44

Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol (2011) 4.37

Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med (2002) 3.96

Three-dimensional structure of a recombinant gap junction membrane channel. Science (1999) 3.69

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med (1995) 3.52

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet (2002) 3.43

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet (1997) 3.26

Connexin43 phosphorylation: structural changes and biological effects. Biochem J (2009) 2.75

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol (2002) 2.72

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol (2004) 2.70

Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell (1992) 2.67

Gap junctions and connexin-interacting proteins. Cardiovasc Res (2004) 2.56

Remodelling of gap junctions and connexin expression in diseased myocardium. Cardiovasc Res (2008) 2.43

Regulation of gap junctions by phosphorylation of connexins. Arch Biochem Biophys (2000) 2.28

Heteromeric connexons in lens gap junction channels. Proc Natl Acad Sci U S A (1996) 2.22

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron (1997) 2.15

Structure of the amino terminus of a gap junction protein. Arch Biochem Biophys (2000) 2.05

Structure-activity relations of the cardiac gap junction channel. Am J Physiol (1990) 2.00

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg (2001) 1.97

Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci (1995) 1.95

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels. J Gen Physiol (2003) 1.87

Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule. Proc Natl Acad Sci U S A (2007) 1.86

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions. Biophys J (1999) 1.82

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet (1998) 1.75

Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development (2002) 1.72

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71

Lens gap junctions in growth, differentiation, and homeostasis. Physiol Rev (2010) 1.70

Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43. Heart Rhythm (2004) 1.70

Connexin phosphorylation as a regulatory event linked to gap junction internalization and degradation. Biochim Biophys Acta (2005) 1.70

Identification of a pore lining segment in gap junction hemichannels. Biophys J (1997) 1.69

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet (2006) 1.68

Molecular basis of calcium regulation in connexin-32 hemichannels. Proc Natl Acad Sci U S A (2003) 1.66

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet (1999) 1.65

Gap junction turnover, intracellular trafficking, and phosphorylation of connexin43 in brefeldin A-treated rat mammary tumor cells. J Cell Biol (1995) 1.61

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. Hum Mol Genet (2007) 1.61

pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains. J Biol Chem (2002) 1.59

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve (2000) 1.57

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett (2003) 1.56

A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet (2004) 1.56

Connexin32-null mice develop demyelinating peripheral neuropathy. Glia (1998) 1.55

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med (1998) 1.55

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci (2001) 1.54

A Calpha model for the transmembrane alpha helices of gap junction intercellular channels. Mol Cell (2004) 1.54

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet (1999) 1.54

Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol (1999) 1.53

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins. Mol Biol Cell (2000) 1.53

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat (2009) 1.52

Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel. J Biol Chem (2005) 1.51

Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol (2002) 1.50

Loss of function and impaired degradation of a cataract-associated mutant connexin50. Eur J Cell Biol (2003) 1.48

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol (2007) 1.48

Identification of amino acid residues lining the pore of a gap junction channel. J Cell Biol (2002) 1.47

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. J Biol Chem (2005) 1.46

Characterization of the pH-dependent interaction between the gap junction protein connexin43 carboxyl terminus and cytoplasmic loop domains. J Biol Chem (2006) 1.45

Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J Gen Physiol (2010) 1.45

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J Neurosci (2002) 1.45

Structural bases for the chemical regulation of Connexin43 channels. Cardiovasc Res (2004) 1.43

A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci (2009) 1.43

Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation (2010) 1.42

Gap junctions and cochlear homeostasis. J Membr Biol (2006) 1.41

Gap-junction channels dysfunction in deafness and hearing loss. Antioxid Redox Signal (2009) 1.39

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci U S A (2005) 1.39

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst (2006) 1.38

Heterotypic docking of Cx43 and Cx45 connexons blocks fast voltage gating of Cx43. Biophys J (2001) 1.37

A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope (2006) 1.36

Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications. Eur J Neurosci (2005) 1.36

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet (2007) 1.35

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis (2008) 1.34

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J Neurosci (1999) 1.34

Altered trafficking of mutant connexin32. J Neurosci (1997) 1.33

Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. Proc Natl Acad Sci U S A (2007) 1.33

Tyrosine phosphorylation of connexin 43 by v-Src is mediated by SH2 and SH3 domain interactions. J Biol Chem (1997) 1.32

Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res (2005) 1.31

Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol (2008) 1.31

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet (1999) 1.30

Gap junction-mediated spread of cell injury and death during myocardial ischemia-reperfusion. Cardiovasc Res (2004) 1.29

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res (2001) 1.29

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat (2001) 1.29

Functional gap junctions in the schwann cell myelin sheath. J Cell Biol (1998) 1.28

Molecular dissection of transjunctional voltage dependence in the connexin-32 and connexin-43 junctions. Biophys J (1999) 1.27

Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43. J Cell Sci (2003) 1.27

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol (2002) 1.26

Divalent cations regulate connexin hemichannels by modulating intrinsic voltage-dependent gating. J Gen Physiol (2008) 1.26

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum Mol Genet (2003) 1.25

Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. J Membr Biol (2002) 1.24

Connections between connexins, calcium, and cataracts in the lens. J Gen Physiol (2004) 1.23

Connexin mutations in deafness. Nature (1998) 1.23

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet (2002) 1.23

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci (1997) 1.22

Mechanisms of Cx43 and Cx26 transport to the plasma membrane and gap junction regeneration. J Cell Sci (2005) 1.21

Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. J Membr Biol (2007) 1.20

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. J Cell Sci (2006) 1.19

Molecular dynamics simulations of the Cx26 hemichannel: evaluation of structural models with Brownian dynamics. J Gen Physiol (2011) 1.19

Conformational changes in a pore-forming region underlie voltage-dependent "loop gating" of an unapposed connexin hemichannel. J Gen Physiol (2009) 1.18