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Volumn 54, Issue 1, 2013, Pages 494-502

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOKERATIN 12; HYBRID PROTEIN; LUCIFERASE; MESSENGER RNA; PLASMID DNA; SMALL INTERFERING RNA;

EID: 84874741259     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10528     Document Type: Article
Times cited : (30)

References (44)
  • 1
    • 0343705883 scopus 로고
    • Über eine bisher nicht beschriebene dominant vererbte Dystrophia epithelialis corneae
    • Meesmann A. Über eine bisher nicht beschriebene dominant vererbte Dystrophia epithelialis corneae. Ber Zusammenkunft Dtsch Ophthalmol Ges. 1938;52:154-158.
    • (1938) Ber Zusammenkunft Dtsch Ophthalmol Ges. , vol.52 , pp. 154-158
    • Meesmann, A.1
  • 2
    • 0032965997 scopus 로고    scopus 로고
    • Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
    • Irvine AD, McLean WHI. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. 1999;140:815-828.
    • (1999) Br J Dermatol. , vol.140 , pp. 815-828
    • Irvine, A.D.1    McLean, W.H.I.2
  • 3
    • 83155167571 scopus 로고    scopus 로고
    • Development of allelespecific therapeutic siRNA in Meesmann epithelial corneal dystrophy
    • Liao H, Irvine AD, Macewen CJ, et al. Development of allelespecific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PloS One. 2011;6:e28582.
    • (2011) PloS One. , vol.6
    • Liao, H.1    Irvine, A.D.2    McEwen, C.J.3
  • 6
    • 0036291857 scopus 로고    scopus 로고
    • A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy
    • Irvine AD, Coleman CM, Moore JE, et al. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Br J Ophthalmol. 2002;86:729-732.
    • (2002) Br J Ophthalmol. , vol.86 , pp. 729-732
    • Irvine, A.D.1    Coleman, C.M.2    Moore, J.E.3
  • 7
    • 79954580272 scopus 로고    scopus 로고
    • Current prospects for RNA interference-based therapies
    • Davidson BL, McCray PB Jr. Current prospects for RNA interference-based therapies. Nature Rev Genet. 2011;12: 329-340.
    • (2011) Nature Rev Genet. , vol.12 , pp. 329-340
    • Davidson, B.L.1    McCray Jr., P.B.2
  • 8
    • 83155181586 scopus 로고    scopus 로고
    • Keratin disorders: From gene to therapy
    • McLean WH, Moore CB. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011;20:R189-R197.
    • (2011) Hum Mol Genet. , vol.20
    • McLean, W.H.1    Moore, C.B.2
  • 9
    • 0032545933 scopus 로고    scopus 로고
    • Potent and specific genetic interference by doublestranded RNA in Caenorhabditis elegans
    • Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC. Potent and specific genetic interference by doublestranded RNA in Caenorhabditis elegans. Nature. 1998;391: 806-811.
    • (1998) Nature. , vol.391 , pp. 806-811
    • Fire, A.1    Xu, S.2    Montgomery, M.K.3    Kostas, S.A.4    Driver, S.E.5    Mello, C.C.6
  • 10
    • 33751099034 scopus 로고    scopus 로고
    • RNAi therapeutics: A potential new class of pharmaceutical drugs
    • Bumcrot D, Manoharan M, Koteliansky V, Sah DW. RNAi therapeutics: a potential new class of pharmaceutical drugs. Nat Chem Biol. 2006;2:711-719.
    • (2006) Nat Chem Biol. , vol.2 , pp. 711-719
    • Bumcrot, D.1    Manoharan, M.2    Koteliansky, V.3    Sah, D.W.4
  • 11
    • 39149111247 scopus 로고    scopus 로고
    • Single-nucleotidespecific siRNA targeting in a dominant-negative skin model
    • Hickerson RP, Smith FJD, Reeves RE, et al. Single-nucleotidespecific siRNA targeting in a dominant-negative skin model. J Invest Dermatol. 2008;128:594-605.
    • (2008) J Invest Dermatol. , vol.128 , pp. 594-605
    • Hickerson, R.P.1    Smith, F.J.D.2    Reeves, R.E.3
  • 13
    • 33746228119 scopus 로고    scopus 로고
    • Knocking down disease with siRNAs
    • Dykxhoorn DM, Lieberman J. Knocking down disease with siRNAs. Cell. 2006;126:231-235.
    • (2006) Cell. , vol.126 , pp. 231-235
    • Dykxhoorn, D.M.1    Lieberman, J.2
  • 14
    • 44349192034 scopus 로고    scopus 로고
    • The business of RNAi therapeutics
    • Haussecker D. The business of RNAi therapeutics. Human Gene Ther. 2008;19:451-462.
    • (2008) Human Gene Ther. , vol.19 , pp. 451-462
    • Haussecker, D.1
  • 16
    • 77952688315 scopus 로고    scopus 로고
    • A randomized, double-blind, placebo-controlled study of an RNAi-based therapy directed against respiratory syncytial virus
    • DeVincenzo J, Lambkin-Williams R, Wilkinson T, et al. A randomized, double-blind, placebo-controlled study of an RNAi-based therapy directed against respiratory syncytial virus. Proc Natl Acad Sci U S A. 2010;107:8800-8805.
    • (2010) Proc Natl Acad Sci U S A. , vol.107 , pp. 8800-8805
    • DeVincenzo, J.1    Lambkin-Williams, R.2    Wilkinson, T.3
  • 17
    • 37049039660 scopus 로고    scopus 로고
    • Development of therapeutic siRNAs for pachyonychia congenita
    • Smith FJ, Hickerson RP, Sayers JM, et al. Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol. 2008;128:50-58.
    • (2008) J Invest Dermatol. , vol.128 , pp. 50-58
    • Smith, F.J.1    Hickerson, R.P.2    Sayers, J.M.3
  • 18
    • 77951132901 scopus 로고    scopus 로고
    • Evidence of RNAi in humans from systemically administered siRNA via targeted nanoparticles
    • Davis ME, Zuckerman JE, Choi CH, et al. Evidence of RNAi in humans from systemically administered siRNA via targeted nanoparticles. Nature. 2010;464:1067-1070.
    • (2010) Nature. , vol.464 , pp. 1067-1070
    • Davis, M.E.1    Zuckerman, J.E.2    Choi, C.H.3
  • 20
    • 32944464372 scopus 로고    scopus 로고
    • Challenges in developing therapies for rare diseases including pachyonychia congenita
    • Kaspar RL. Challenges in developing therapies for rare diseases including pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:62-66.
    • (2005) J Investig Dermatol Symp Proc. , vol.10 , pp. 62-66
    • Kaspar, R.L.1
  • 22
    • 0033958844 scopus 로고    scopus 로고
    • Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
    • Corden LD, Swensson O, Swensson B, et al. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000;70:41-49.
    • (2000) Exp Eye Res. , vol.70 , pp. 41-49
    • Corden, L.D.1    Swensson, O.2    Swensson, B.3
  • 23
    • 0031003675 scopus 로고    scopus 로고
    • Mutations in corneaspecific keratins K3 or K12 cause Meesmann's corneal dystrophy
    • Irvine AD, Corden LD, Swensson O, et al. Mutations in corneaspecific keratins K3 or K12 cause Meesmann's corneal dystrophy. Nat Genet. 1997;16:184-187.
    • (1997) Nat Genet. , vol.16 , pp. 184-187
    • Irvine, A.D.1    Corden, L.D.2    Swensson, O.3
  • 24
    • 84856958561 scopus 로고    scopus 로고
    • Short-interfering RNAs induce retinal degeneration via TLR3 and IRF3
    • Kleinman ME, Kaneko H, Cho WG, et al. Short-interfering RNAs induce retinal degeneration via TLR3 and IRF3. Mol Ther. 2012;20:101-108.
    • (2012) Mol Ther. , vol.20 , pp. 101-108
    • Kleinman, M.E.1    Kaneko, H.2    Cho, W.G.3
  • 25
    • 73149101858 scopus 로고    scopus 로고
    • Characterisation and functional features of a spontaneously immortalised human corneal epithelial cell line with progenitor-like characteristics
    • Notara M, Daniels JT. Characterisation and functional features of a spontaneously immortalised human corneal epithelial cell line with progenitor-like characteristics. Brain Res Bull. 2010; 81:279-286.
    • (2010) Brain Res Bull. , vol.81 , pp. 279-286
    • Notara, M.1    Daniels, J.T.2
  • 27
    • 80052865748 scopus 로고    scopus 로고
    • Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex
    • Atkinson SD, McGilligan VE, Liao H, et al. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol. 2011;131: 2079-2086.
    • (2011) J Invest Dermatol. , vol.131 , pp. 2079-2086
    • Atkinson, S.D.1    McGilligan, V.E.2    Liao, H.3
  • 28
    • 84861184577 scopus 로고    scopus 로고
    • Generic and personalized RNAi-based therapeutics for a dominantnegative epidermal fragility disorder
    • Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, et al. Generic and personalized RNAi-based therapeutics for a dominantnegative epidermal fragility disorder. J Invest Dermatol. 2012; 132:1627-1635.
    • (2012) J Invest Dermatol. , vol.132 , pp. 1627-1635
    • Leslie Pedrioli, D.M.1    Fu, D.J.2    Gonzalez-Gonzalez, E.3
  • 29
    • 0345206574 scopus 로고
    • Detection and characterization of keratins by immunocytochemistry and immunoblotting
    • In: Leigh IM, Lane EB, Watt FM, eds, Cambridge, UK: Cambridge University Press
    • Rugg EL. Detection and characterization of keratins by immunocytochemistry and immunoblotting. In: Leigh IM, Lane EB, Watt FM, eds. Keratinocyte Methods. Cambridge, UK: Cambridge University Press; 1994;127-148.
    • (1994) Keratinocyte Methods , pp. 127-148
    • Rugg, E.L.1
  • 30
    • 9144247189 scopus 로고    scopus 로고
    • Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs
    • Soutschek J, Akinc A, Bramlage B, et al. Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs. Nature. 2004;432:173-178.
    • (2004) Nature. , vol.432 , pp. 173-178
    • Soutschek, J.1    Akinc, A.2    Bramlage, B.3
  • 31
    • 0035803583 scopus 로고    scopus 로고
    • Functional anatomy of siRNAs for mediating efficient RNAi in Drosophila melanogaster embryo lysate
    • Elbashir SM, Martinez J, Patkaniowska A, Lendeckel W, Tuschl T. Functional anatomy of siRNAs for mediating efficient RNAi in Drosophila melanogaster embryo lysate. EMBO J. 2001;20: 6877-6888.
    • (2001) EMBO J. , vol.20 , pp. 6877-6888
    • Elbashir, S.M.1    Martinez, J.2    Patkaniowska, A.3    Lendeckel, W.4    Tuschl, T.5
  • 32
    • 79954616664 scopus 로고    scopus 로고
    • Development of quantitative molecular clinical end points for siRNA clinical trials
    • Hickerson RP, Leachman SA, Pho LN, et al. Development of quantitative molecular clinical end points for siRNA clinical trials. J Invest Dermatol. 2011;131:1029-1036.
    • (2011) J Invest Dermatol. , vol.131 , pp. 1029-1036
    • Hickerson, R.P.1    Leachman, S.A.2    Pho, L.N.3
  • 33
    • 0028172696 scopus 로고
    • A functional "knockout" of human keratin 14
    • Rugg EL, McLean WH, Lane EB, et al. A functional "knockout" of human keratin 14. Genes Dev. 1994;8:2563-2573.
    • (1994) Genes Dev. , vol.8 , pp. 2563-2573
    • Rugg, E.L.1    McLean, W.H.2    Lane, E.B.3
  • 34
    • 0035809198 scopus 로고    scopus 로고
    • An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy
    • Cao T, Longley MA, Wang XJ, Roop DR. An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy. J Cell Biol. 2001;152:651-656.
    • (2001) J Cell Biol. , vol.152 , pp. 651-656
    • Cao, T.1    Longley, M.A.2    Wang, X.J.3    Roop, D.R.4
  • 35
    • 76349084709 scopus 로고    scopus 로고
    • First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder
    • Leachman SA, Hickerson RP, Schwartz ME, et al. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther. 2010;18:442-446.
    • (2010) Mol Ther. , vol.18 , pp. 442-446
    • Leachman, S.A.1    Hickerson, R.P.2    Schwartz, M.E.3
  • 36
    • 40549123948 scopus 로고    scopus 로고
    • The Human Intermediate Filament Database: Comprehensive information on a gene family involved in many human diseases
    • Szeverenyi I, Cassidy AJ, Chung CW, et al. The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat. 2008;29:351-360.
    • (2008) Hum Mutat. , vol.29 , pp. 351-360
    • Szeverenyi, I.1    Cassidy, A.J.2    Chung, C.W.3
  • 37
    • 33744968013 scopus 로고    scopus 로고
    • A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
    • Boutboul S, Black GC, Moore JE, et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006;27:553-557.
    • (2006) Hum Mutat. , vol.27 , pp. 553-557
    • Boutboul, S.1    Black, G.C.2    Moore, J.E.3
  • 39
    • 0034646599 scopus 로고    scopus 로고
    • Amyloid and nonamyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
    • Korvatska E, Henry H, Mashima Y, et al. Amyloid and nonamyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem. 2000;275: 11465-11469.
    • (2000) J Biol Chem. , vol.275 , pp. 11465-11469
    • Korvatska, E.1    Henry, H.2    Mashima, Y.3
  • 40
    • 17444368008 scopus 로고    scopus 로고
    • Triggering of TLR3 by polyI:C in human corneal epithelial cells to induce inflammatory cytokines
    • Ueta M, Hamuro J, Kiyono H, Kinoshita S. Triggering of TLR3 by polyI:C in human corneal epithelial cells to induce inflammatory cytokines. Biochem Biophys Res Commun. 2005;331:285-294.
    • (2005) Biochem Biophys Res Commun. , vol.331 , pp. 285-294
    • Ueta, M.1    Hamuro, J.2    Kiyono, H.3    Kinoshita, S.4
  • 41
    • 34250179508 scopus 로고    scopus 로고
    • Expression of toll-like receptors in human limbal and conjunctival epithelial cells
    • Li J, Shen J, Beuerman RW. Expression of toll-like receptors in human limbal and conjunctival epithelial cells. Mol Vis. 2007; 13:813-822.
    • (2007) Mol Vis. , vol.13 , pp. 813-822
    • Li, J.1    Shen, J.2    Beuerman, R.W.3
  • 43
    • 48049103228 scopus 로고    scopus 로고
    • Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
    • Leachman SA, Hickerson RP, Hull PR, et al. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci. 2008;51:151-157.
    • (2008) J Dermatol Sci. , vol.51 , pp. 151-157
    • Leachman, S.A.1    Hickerson, R.P.2    Hull, P.R.3
  • 44
    • 0001541310 scopus 로고
    • Cell production and migration in the epithelial layer of the cornea
    • Hanna C, O'Brien JE. Cell production and migration in the epithelial layer of the cornea. Arch Ophthalmol. 1960;64:536-539.
    • (1960) Arch Ophthalmol. , vol.64 , pp. 536-539
    • Hanna, C.1    O'Brien, J.E.2


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