Genomes and Genes
Gene Symbol: Gja8
Description: gap junction protein, alpha 8
Alias: Aey5, Cnx50, Cx50, Lop10, gap junction alpha-8 protein, alpha 8 connexin, connexin-50, gap junction membrane channel protein alpha 8, lens fiber protein MP70, lens opacity 10
- Chromosomal assignments of mouse genes for connexin 50 and connexin 33 by somatic cell hybridizationH J Schwarz
Abt Molekulargenetik, Universitat Bonn, Germany
Somat Cell Mol Genet 20:243-7. 1994..X Chinese hamster somatic cell hybrids and molecular probes of murine connexin genes, we have assigned the connexin 50 gene to mouse chromosome 3...
- The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomesJ Deussing
Zentrum Biochemie und Molekulare Zellbiologie, Abt Biochemie II, Universitat Gottingen, Gosslerstrasse 12d, 37073 Gottingen, Germany
Mamm Genome 8:241-5. 1997....
- Gap junctional coupling in lenses lacking alpha3 connexinX Gong
Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 95:15303-8. 1998..cells of the lens are interconnected by an extensive network of gap junctions containing alpha3 (Cx46) and alpha8 (Cx50) connexins. A specific role for these connexins in lens homeostasis is not known...
- Connexin50 is essential for normal postnatal lens cell proliferationCaterina Sellitto
Department of Physiology and Biophysics, State University of New York, Stony Brook, New York, 11794 8661, USA
Invest Ophthalmol Vis Sci 45:3196-202. 2004Connexin50 (Cx50) is absolutely essential for normal postnatal lens growth. Deletion of Cx50 or replacement with Cx46 by knockin resulted in smaller lenses containing fewer cells...
- Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50Camillo Peracchia
Department of Pharmacology and Physiology, University of Rochester School of Medicine, 601 Elmwood Ave, Rochester, NY 14642 8711, USA
Am J Physiol Cell Physiol 288:C1381-9. 2005..on transjunctional voltage (V(j)) gating was studied by dual voltage-clamp in oocytes expressing mouse connexin 50 (Cx50) or a Cx50 mutant (Cx50-D3N), in which the third residue, aspartate (D), was mutated to asparagine (N)...
- Unique and redundant connexin contributions to lens developmentThomas W White
Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
Science 295:319-20. 2002..Knockout of Cx46 causes a loss of homeostasis and cataracts. Deletion of Cx50 results in reduced ocular growth and cataracts...
- Prenatal lens development in connexin43 and connexin50 double knockout miceT W White
Department of Physiology and Biophysics, State University of New York, Stony Brook 11794 8661, USA
Invest Ophthalmol Vis Sci 42:2916-23. 2001To determine the roles of intercellular communication in embryonic eye growth and development, mice with a targeted deletion of the Cx43 gene were examined, and mice without both Cx43 and Cx50 were generated and analyzed.
- Defining a link between gap junction communication, proteolysis, and cataract formationA Baruch
Department of Biochemistry and Biophysics, University of California, San Francisco, California 94143, USA
J Biol Chem 276:28999-9006. 2001....
- The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexinsAdam M DeRosa
Department of Physiology and Biophysics and the Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794, USA
J Cell Sci 120:4107-16. 2007Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes...
- Gap junction communication influences intercellular protein distribution in the lensCatherine Cheng
UC Berkeley UCSF Joint Graduate Program in Bioengineering, University of California, Berkeley, Berkeley, CA, USA
Exp Eye Res 86:966-74. 2008..Although the mechanism that drives GFP transport between fiber cells remains unknown, this work reveals that gap junction communication plays a novel role in the regulation of intercellular protein distribution in the lens...
- Genetic diseases and gene knockouts reveal diverse connexin functionsT W White
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
Annu Rev Physiol 61:283-310. 1999..In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity...
- The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epitheliumAdam M DeRosa
Department of Physiology and Biophysics, State University of New York, T5 147, Basic Science Tower, Stony Brook, NY 11794 8661, USA
Exp Cell Res 315:1063-75. 2009Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully elucidated...
- Gap junctional coupling in lenses from alpha(8) connexin knockout miceG J Baldo
Department of Physiology and Biophysics, State University of New York, Stony Brook, NY 11794 8661, USA
J Gen Physiol 118:447-56. 2001Lens fiber cell gap junctions contain alpha(3) (Cx46) and alpha(8) (Cx50) connexins. To examine the roles of the two different connexins in lens physiology, we have genetically engineered mice lacking either alpha(3) or alpha(8) connexin...
- Functional characterization of a naturally occurring Cx50 truncationAdam M DeRosa
Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794 8661, USA
Invest Ophthalmol Vis Sci 47:4474-81. 2006..This study evaluates the functional consequences of this endogenous truncation by characterizing the properties of a C-terminal truncated Cx50 protein.
- Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturationPei Rong
Department of Cell Biology, The Scripps Research Institute, La Jolla, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Development 129:167-74. 2002..communication network via gap junction channels, which are made up of at least three connexin isoforms, alpha8 (Cx50), alpha3 (Cx46) and alpha1 (Cx43), and which are encoded by three different genes...
- Absence of alpha3 (Cx46) and alpha8 (Cx50) connexins leads to cataracts by affecting lens inner fiber cellsChun hong Xia
School of Optometry and Vision Science Program, University of California at Berkeley, 693 Minor Hall, Berkeley, CA 94720 2020, USA
Exp Eye Res 83:688-96. 2006..have been hypothesized to depend on intercellular gap junction channels, consisting of alpha3 (Cx46) and alpha8 (Cx50) connexin subunits, to transport metabolites, secondary messages and ions between lens cells...
- A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 miceBo Chang
The Jackson Laboratory, Bar Harbor, ME, USA
Hum Mol Genet 11:507-13. 2002..We recently mapped an autosomal semi-dominant cataract [lens opacity 10 (Lop10)] mutation to mouse chromosome 3 and identified a missense mutation (G-->C) in the Gja8 gene, which ..
- Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesisChun hong Xia
School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
Development 133:2033-40. 2006Different mutations of alpha3 connexin (Cx46 or Gja8) and alpha8 connexin (Cx50 or Gja8), subunits of lens gap junction channels, cause a variety of cataracts via unknown mechanisms...
- Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout miceDwan A Gerido
Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
Invest Ophthalmol Vis Sci 44:2669-74. 2003..whether these two traits are influenced by genetic background and are dependent on each other, mice carrying the Cx50 deletion in two different strains were generated, and the growth defect and severity of cataracts were analyzed.
- Dominant cataracts result from incongruous mixing of wild-type lens connexinsFrancisco J Martinez-Wittinghan
Department of Physiology and Biophysics, State University of New York, Stony Brook 11794, USA
J Cell Biol 161:969-78. 2003..In the lens, Cx46 and Cx50 provide the gap junctional coupling needed for homeostasis and growth...
- Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)Peter A Nielsen
Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
Mol Biol Cell 14:2470-81. 2003..The spatial variation in the interaction of ZO-1 with lens gap junctions is intriguing and is suggestive of multiple dynamic roles for this association...
- Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70T W White
Program in Cell and Developmental Biology, Harvard Medical School, Boston, Massachusetts 02115
Mol Biol Cell 3:711-20. 1992..gap junction proteins, Cx50, and have shown that it is likely to correspond to the previously described lens fiber protein MP70. The N-terminal amino acid sequence of MP70 closely matches the sequence predicted by the clone...
- Connections between connexins, calcium, and cataracts in the lensJunyuan Gao
Department of Physiology and Biophysics, State University of New York at Stony Brook, NY 11794, USA
J Gen Physiol 124:289-300. 2004..test this calcium circulation hypothesis by studying calcium homeostasis in connexin (Cx46) knockout and (Cx46 for Cx50) knockin mouse lenses, which have different degrees of gap junction coupling...
- Lens gap junctional coupling is modulated by connexin identity and the locus of gene expressionFrancisco J Martinez-Wittinghan
Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
Invest Ophthalmol Vis Sci 45:3629-37. 2004..To investigate the effects of reducing connexin (Cx) diversity in the lens when the amount of connexin protein is nearly constant...
- Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutationChun hong Xia
School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA, USA
J Cell Sci 119:2138-44. 2006A G22R point mutation in alpha8 connexin (Cx50) has been previously shown to cause a severe cataract by interacting with endogenous wild-type alpha3 connexin (Cx46) in mouse lenses...
- Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataractsT W White
Department of Cell Biology and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
J Cell Biol 143:815-25. 1998..Gap junctions in rodent lens fibers contain two known intercellular channel-forming proteins, connexin50 (Cx50) and Cx46...
- Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotesP E Runge
Jules Stein Eye Institute, UCLA Medical Center
Invest Ophthalmol Vis Sci 33:3202-8. 1992..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene...
- Gap junction formation during development of the mouse lensC W Evans
Department of Zoology, University of Auckland, New Zealand
Eur J Cell Biol 60:243-9. 1993..Our results suggest that gap junctions in the central region of the developing mouse lens undergo sequential changes in immunoreactivity which may reflect potentially distinct functional phases of intercellular communication...
- The unfolded protein response is activated in connexin 50 mutant mouse lensesBhagwat V Alapure
Department of Biological Sciences, University of Delaware, 327 Wolf Hall, The Green, Newark, DE 19716, USA
Exp Eye Res 102:28-37. 2012..While mutations in the gene for connexin 50 are known to cause autosomal dominant cataracts, it has not been previously reported whether mutant connexins ..
- L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexinsRupalatha Maddala
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA
PLoS ONE 8:e64676. 2013....
- Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiationViviana M Berthoud
Department of Pediatrics, University of Chicago, Chicago, Illinois
Invest Ophthalmol Vis Sci 54:7614-22. 2013Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to autosomal dominant congenital cataracts in several human pedigrees...
- Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cellsLisa Ebihara
Department of Physiology and Biophysics, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois
Am J Physiol Cell Physiol 306:C506-13. 2014..to the basal membrane permeability of peripheral fiber cells isolated from transgenic mouse lenses lacking Cx50 or both Cx50 and Cx46 (dKO) using the whole cell patch-clamp technique...
- Connexin46fs380 causes progressive cataractsViviana M Berthoud
Department of Pediatrics, University of Chicago, Chicago, Illinois, United States
Invest Ophthalmol Vis Sci 55:6639-48. 2014..The current experiments were designed to characterize the consequences of expression of one such mutant, Cx46fs380, in the mouse lens...
- Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gatingXiaoling Tong
Department of Physiology and Pharmacology, Western University, London, Ontario, Canada
J Physiol 592:5187-202. 2014..Specifically, G46D and G46E increased the Cx50 γj from 201 to 256 and 293 pS, respectively and the G46K channel showed an apparent γj of only 20 pS...
- Connexin50 couples axon terminals of mouse horizontal cells by homotypic gap junctionsBirthe Dorgau
Department of Neurobiology, University of Oldenburg, D 26111, Oldenburg, Germany
J Comp Neurol 523:2062-81. 2015..We investigated the expression of Cx50, which was recently identified in axonless A-type horizontal cells of the rabbit retina...
- Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testesR Marc Pelletier
Department of Pathology and Cell Biology, Universite de Montreal, Quebec, Canada and
Am J Physiol Regul Integr Comp Physiol 309:R255-76. 2015..This report assesses mechanisms underlying the regulation of connexin 46 (Cx46) and Cx50 in mouse testis and those accompanying a "natural" seasonal and a pathological arrest of spermatogenesis, resulting ..
- The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse LensesViviana M Berthoud
From the Department of Pediatrics and
J Biol Chem 291:17569-78. 2016....
- Structural changes in lenses of mice lacking the gap junction protein connexin43Y Gao
Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Invest Ophthalmol Vis Sci 39:1198-209. 1998..To investigate the role of the gap junction protein connexin43 (Cx43), which is predominantly expressed in lens epithelial cells in the control of lens development and organization...
- Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channelsZhifang Chai
Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
Mol Biol Cell 22:4503-12. 2011..We found that Cx50 with PDZ-binding motif mutations did not form gap junction plaques or induce cell-cell communication in HeLa cells, ..
- Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2Chun hong Xia
School of Optometry and Vision Science Program, University of California, Berkeley, California, United States of America
PLoS ONE 7:e52894. 2012..This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein...
- Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductanceLi Xin
Graduate Program of Neuroscience, Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada
Biophys J 102:1022-31. 2012..acid residue (D) at the third position is critical in determining the voltage polarity of fast V(j)-gating of Cx50 channels...
- Diverse functions of vertebrate gap junctionsA M Simon
Dept of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
Trends Cell Biol 8:477-83. 1998....
- Interaction between Connexin50 and mitogen-activated protein kinase signaling in lens homeostasisTeresa I Shakespeare
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794 8661, USA
Mol Biol Cell 20:2582-92. 2009..Activation of MAPK signaling pathways significantly increased coupling provided by Cx50, but not Cx46, in paired Xenopus laevis oocytes in vitro, as well as between freshly isolated lens cells in vivo...
- Connexin mediated cataract prevention in miceLin Li
Vision Science Program and School of Optometry, University of California, Berkeley, California, United States of America
PLoS ONE 5:. 2010..Thus, the use of an array of small molecules to promote lens homeostasis may become a feasible non-surgical approach for nuclear cataract prevention in the future...
- Properties of connexin 46 hemichannels in dissociated lens fiber cellsLisa Ebihara
Departments of Physiology and Biophysics, Rosalind Franklin School of Medicine and Science, North Chicago, Illinois 60064, USA
Invest Ophthalmol Vis Sci 52:882-9. 2011..To characterize the properties of connexin 46 hemichannels in differentiating fiber cells isolated from mouse lenses...
- Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locusBaskar Bakthavachalu
National Centre for Cell Science, Ganeshkhind, India
J Genet 89:147-54. 2010..3 and further mapping and sequence analysis identified the mutation in the GJA8 gene that encodes for connexin 50. The mutation represents a single nucleotide change at position 64 (G to C) that results in a change in the ..
- The role of amino terminus of mouse Cx50 in determining transjunctional voltage-dependent gating and unitary conductanceLi Xin
The University of Western Ontario, London, Ontario, Canada
Biophys J 99:2077-86. 2010..To better understand the molecular structure(s) determining the V(j)-gating properties and the γ(j) of Cx50, we have replaced part of the amino-terminus of mCx50 by the corresponding domain of mCx36 to engineer a chimera ..
- Molecular interaction and functional regulation of connexin50 gap junctions by calmodulinYanyi Chen
Department of Chemistry, Georgia State University, Atlanta, GA 30303, USA
Biochem J 435:711-22. 2011b>Cx50 (connexin50), a member of the α-family of gap junction proteins expressed in the lens of the eye, has been shown to be essential for normal lens development...
- A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataractE C Steele
Emory Eye Center, Emory University School of Medicine, Atlanta, GA 30322, USA
Curr Eye Res 17:883-9. 1998..The aim of this work was to identify and subsequently screen an optimal candidate gene for a mutation correlated and consistent with the observed phenotype...
- Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genomeM Peterfy
Department of Biomedical Science, Amgen Inc, Thousand Oaks, CA 91320 1789, USA
Gene 216:225-31. 1998..Our results indicate that only one of the three LIS1-related mouse loci (Pafaha/Lis1) is functional, in contrast with two closely related functional genes (LIS1 and LIS2) reported in humans. 1998 Elsevier Science B.V...
- Mapping of the mouse actin capping protein alpha subunit genes and pseudogenesM C Hart
Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
Genomics 39:264-70. 1997..One mouse mutation, de, maps in the vicinity of the alpha 1 gene. No known mouse mutations map to regions near the alpha 2 or alpha 3 genes...
- Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19)S Kerscher
MRC Radiobiology Unit, Didcot, Oxfordshire, United Kingdom
Genomics 29:445-50. 1995..The other two genes encode lens-specific gap junction and integral membrane proteins, respectively: The Gja8 locus encoding gap juction membrane channel protein alpha8, also called connexin50 or MP70, maps to chromosome 3, ..
- Multiple members of the connexin gene family participate in preimplantation development of the mouseT C Davies
Department of Zoology, University of Western Ontario, London, Canada
Dev Genet 18:234-43. 1996..The expression of multiple connexin genes during this early period of embryogenesis (when there are only two distinct cell types) raises questions about the functional significance of connexin diversity in this context...
- A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosoureaJ Favor
Mutat Res 110:367-82. 1983
- Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataractJ Graw
GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, D 85764, Germany
Exp Eye Res 73:867-76. 2001..This mutation results in Val-->Ala substitution at codon 64 of connexin50 (Cx50) also known as lens membrane protein 70 (MP70)...
- mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouseSubhash C Juneja
Department of Zoology, The University of Western Ontario, London, Canada
Indian J Physiol Pharmacol 47:147-56. 2003..The mRNA expression pattern of connexins (Cx26, Cx30.3, Cx31, Cx31.1, Cx32, Cx37, Cx40, Cx43, Cx45, Cx46 and Cx50) was analyzed by RT-PCR...
- An update on connexin genes and their nomenclature in mouse and manGoran Sohl
Institut fur Genetik, Universitat Bonn, Germany
Cell Commun Adhes 10:173-80. 2003..Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes...
- Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammalsAndrew Forge
UCL Centre for Auditory Research and Institute of Laryngology and Otology, University College London, London WC1X 8EE, United Kingdom
J Comp Neurol 467:207-31. 2003..Heteromeric cx26/cx30 connexons may be unique to the inner ear, which could be one factor underlying the non-syndromic character of the deafness caused by mutations in cx26...
- The novel mouse connexin39 gene is expressed in developing striated muscle fibersJulia von Maltzahn
Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Römerstr 164, 53117 Bonn, Germany
J Cell Sci 117:5381-92. 2004..As expression of no other known connexin could be verified in these cells, intercellular dye transfer might result from functional expression of Cx39 in developing striated muscle fibers...
- Mapping of A gene responsible for cataract formation and its modifier in the UPL ratSatoshi Yamashita
Carcinogenesis Division, National Cancer Center Research Institute, Tokyo, Japan
Invest Ophthalmol Vis Sci 43:3153-9. 2002..In this study, a gene and its modifier, which are responsible for formation of cataract, were mapped...
- Temporal expression of three mouse lens fiber cell membrane protein genes during early developmentLing Zhou
Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA
Mol Vis 8:143-8. 2002Three different lens fiber cell intrinsic membrane proteins, MIP (Major Intrinsic Protein), MP19, and connexin50 (Cx50), have separately been implicated as causative candidates for congenital cataracts...
- An expression atlas of connexin genes in the mouseAnnalisa Buniello
Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
Genomics 83:812-20. 2004....
- Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout miceIrene Dunia
Biologie Cellulaire, Institut Jacques Monod, CNRS, Universités Paris 6 Paris 7, 2, place Jussieu, F 75251 Paris Cedex 5, France
Eur J Cell Biol 85:729-52. 2006..the current study we describe the changes of overall organization of lens fiber cells in connexin 46 (Cx46) and connexin 50 (Cx50) knockout mice...
- Positional cloning of the combined hyperlipidemia gene Hyplip1Jackie S Bodnar
Department of Medicine, University of California, Los Angeles, 47 123 CHS, UCLA School of Medicine, Los Angeles, California 90095, USA
Nat Genet 30:110-6. 2002..These results reveal a new pathway of potential clinical significance that contributes to plasma lipid metabolism...
- Transgenic overexpression of connexin50 induces cataractsJune Chung
Department of Pediatrics, University of Chicago, IL 60637, USA
Exp Eye Res 84:513-28. 2007To examine the effects of increased expression of Cx50 in the mouse lens, transgenic mice were generated using a DNA construct containing the human Cx50 coding region and a C-terminal FLAG epitope driven by the chicken betaB1-crystallin ..
- Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytesBasilio A Kotsias
Department of Pharmacology and Physiology, University of Rochester School of Medicine, 601 Elmwood Avenue, Rochester, NY 14642 8711, USA
J Membr Biol 214:1-8. 2006..between CFTR and gap junction channels, we coexpressed in Xenopus oocytes CFTR and either Cx45, Cx40, Cx32 or Cx50 and monitored junctional conductance (G (j)) and its sensitivity to transjunctional voltage (V (j)) by the dual ..
- MARCKS-like protein, a membrane protein identified for its expression in developing neural retina, plays a role in regulating retinal cell proliferationJing Zhao
Department of Molecular and Developmental Biology, Institute of Medical Science, University of Tokyo, 4 6 1 Shirokanedai, Minato ku, 108 8639, Tokyo, Japan
Biochem J 408:51-9. 2007..Mutation analysis of MLP demonstrated that myristoylation was necessary to promote proliferation and that phosphorylation inhibited proliferation, indicating the functional importance of membrane localization...
- Optimal lens epithelial cell proliferation is dependent on the connexin isoform providing gap junctional couplingThomas W White
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New York, USA
Invest Ophthalmol Vis Sci 48:5630-7. 2007Gap junctions between epithelial cells are essential for normal lens growth. In mice, knockout of Cx50 or targeted replacement of Cx50 with Cx46 (knockin) caused smaller lenses because of decreased epithelial cell proliferation...
- Characterization of a mouse Cx50 mutation associated with the No2 mouse cataractX Xu
Department of Physiology and Biophysics, FUHS The Chicago Medical School, North Chicago, Illinois 60064, USA
Invest Ophthalmol Vis Sci 40:1844-50. 1999Recently, a missense mutation in the mouse connexin 50 (Cx50) gene has been associated with the nuclear opacity 2 (No2) mouse cataract...
- Synergistic gene interactions control the induction of the mitochondrial uncoupling protein (Ucp1) gene in white fat tissueR A Koza
Pennington Biomedical Research Center, Baton Rouge, Louisiana 70808, USA
J Biol Chem 275:34486-92. 2000..In addition to selective synergistic interactions between loci, variations in recessive and dominant effects also contribute to the final levels of Ucp1 expression...
- Structure Function in Low Resistance JunctionsCamillo Peracchia; Fiscal Year: 2005..The relevance of a potential CaM binding site identified in connexins (similar to that of CaM kinase II) will be tested with deletion and mutation of crucial Cx32 residues. ..