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Volumn 27, Issue 6-7, 2008, Pages 839-849

IMP dehydrogenase-linked retinitis pigmentosa

Author keywords

Bateman domains; CBS domains; IMPDH1; Leber congenital amaurosis; Moonlighting enzymes

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; GUANINE NUCLEOTIDE; INOSINATE DEHYDROGENASE; INOSINE MONOPHOSPHATE DEHYDROGENASE 1; MESSENGER RNA;

EID: 46749097520     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802146486     Document Type: Conference Paper
Times cited : (13)

References (53)
  • 1
    • 0037095736 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
    • Rivolta, C.; Sharon, D.; DeAngelis, M.M.; Dryja, T.P. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 2002, 11, 1219-1227.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 1219-1227
    • Rivolta, C.1    Sharon, D.2    DeAngelis, M.M.3    Dryja, T.P.4
  • 2
    • 0036501462 scopus 로고    scopus 로고
    • Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice
    • Kennan, A.; Aherne, A.; Palfi, A.; Humphries, M.; McKee, A.; et al. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Hum. Mol. Genet. 2002, 11, 547-557.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 547-557
    • Kennan, A.1    Aherne, A.2    Palfi, A.3    Humphries, M.4    McKee, A.5
  • 4
    • 20444451619 scopus 로고    scopus 로고
    • Screen of the IMPDH1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn
    • Wada, Y.; Sandberg, M.A.; McGee, T.L.; Stillberger, M.A.; Berson, E.L.; Dryja, T.P. Screen of the IMPDH1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn. Invest. Ophthalmol. Vis. Sci. 2005, 46, 1735-1741.
    • (2005) Invest. Ophthalmol. Vis. Sci , vol.46 , pp. 1735-1741
    • Wada, Y.1    Sandberg, M.A.2    McGee, T.L.3    Stillberger, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 5
    • 0032804406 scopus 로고    scopus 로고
    • IMP dehydrogenase: Mechanism of action and inhibition
    • Hedstrom, L. IMP dehydrogenase: mechanism of action and inhibition. Curr. Med. Chem. 1999, 6, 545-560.
    • (1999) Curr. Med. Chem , vol.6 , pp. 545-560
    • Hedstrom, L.1
  • 6
    • 0042190435 scopus 로고    scopus 로고
    • Targeted disruption of the inosine 5′-monophosphate dehydrogenase type I gene in mice
    • Gu, J.J.; Tolin, A.K.; Jain, J.;Huang, H.; Santiago, L.;Mitchell, B.S. Targeted disruption of the inosine 5′-monophosphate dehydrogenase type I gene in mice. Mol. Cell. Biol. 2003, 23, 6702-6712.
    • (2003) Mol. Cell. Biol , vol.23 , pp. 6702-6712
    • Gu, J.J.1    Tolin, A.K.2    Jain, J.3    Huang, H.4    Santiago, L.5    Mitchell, B.S.6
  • 7
    • 1642534346 scopus 로고    scopus 로고
    • Regulation of inosine monophosphate dehydrogenase type I and type II isoforms in human lymphocytes
    • Jain, J.; Almquist, S.J.; Ford, P.J.; Shlyakhter, D.; Wang, Y.; et al. Regulation of inosine monophosphate dehydrogenase type I and type II isoforms in human lymphocytes. Biochem. Pharmacol. 2004, 67, 767-776.
    • (2004) Biochem. Pharmacol , vol.67 , pp. 767-776
    • Jain, J.1    Almquist, S.J.2    Ford, P.J.3    Shlyakhter, D.4    Wang, Y.5
  • 9
    • 4744352024 scopus 로고    scopus 로고
    • A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa
    • Grover, S.; Fishman, G.A.; Stone, E.M. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Ophthalmology 2004, 111, 1910-1916.
    • (2004) Ophthalmology , vol.111 , pp. 1910-1916
    • Grover, S.1    Fishman, G.A.2    Stone, E.M.3
  • 10
    • 33644836138 scopus 로고    scopus 로고
    • Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
    • Bowne, S.J.; Sullivan, L.S.; Mortimer, S.E.; Hedstrom, L.; Zhu, J.; et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 2004, 47, 34-42.
    • (2004) Invest. Ophthalmol. Vis. Sci , vol.47 , pp. 34-42
    • Bowne, S.J.1    Sullivan, L.S.2    Mortimer, S.E.3    Hedstrom, L.4    Zhu, J.5
  • 12
    • 0032768502 scopus 로고    scopus 로고
    • Mizoribine and mycophenolate mofetil
    • Ishikawa, H. Mizoribine and mycophenolate mofetil. Curr. Med. Chem. 1999, 6, 575-597.
    • (1999) Curr. Med. Chem , vol.6 , pp. 575-597
    • Ishikawa, H.1
  • 13
    • 0033616611 scopus 로고    scopus 로고
    • Crystal structure of human type II inosine monophosphate dehydrogenase: Implications for ligand binding and drug design
    • Colby, T.D.; Vanderveen, K.; Strickler, M.D.; Markham, G.D.; Goldstein, B.M. Crystal structure of human type II inosine monophosphate dehydrogenase: implications for ligand binding and drug design. Proc. Natl. Acad. Sci., USA 1999, 96, 3531-3536.
    • (1999) Proc. Natl. Acad. Sci., USA , vol.96 , pp. 3531-3536
    • Colby, T.D.1    Vanderveen, K.2    Strickler, M.D.3    Markham, G.D.4    Goldstein, B.M.5
  • 15
    • 0037027331 scopus 로고    scopus 로고
    • Crystal structure of a ternary complex of Tritrichomonas foetus inosine 5′-monophosphate dehydrogenase: NAD+ orients the active site loop for catalysis
    • Gan, L.; Petsko, G.A.; Hedstrom, L. Crystal structure of a ternary complex of Tritrichomonas foetus inosine 5′-monophosphate dehydrogenase: NAD+ orients the active site loop for catalysis. Biochemistry 2002, 41, 13309-13317.
    • (2002) Biochemistry , vol.41 , pp. 13309-13317
    • Gan, L.1    Petsko, G.A.2    Hedstrom, L.3
  • 16
    • 23944520368 scopus 로고    scopus 로고
    • Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding
    • Mortimer, S.E.; Hedstrom, L. Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding. Biochem. J. 2005, 390, 41-47.
    • (2005) Biochem. J , vol.390 , pp. 41-47
    • Mortimer, S.E.1    Hedstrom, L.2
  • 17
    • 1342332128 scopus 로고    scopus 로고
    • Bateman domains and adenosine derivatives form a binding contract
    • Kemp, B.E. Bateman domains and adenosine derivatives form a binding contract. J. Clin. Invest. 2005, 113, 182-184.
    • (2005) J. Clin. Invest , vol.113 , pp. 182-184
    • Kemp, B.E.1
  • 18
    • 27744463780 scopus 로고    scopus 로고
    • CBS domains: Structure, function, and pathology in human proteins
    • Ignoul, S.; Eggermont, J. CBS domains: structure, function, and pathology in human proteins. Am. J. Physiol. Cell Physiol. 2005, 289, C1369-C1378.
    • (2005) Am. J. Physiol. Cell Physiol , vol.289
    • Ignoul, S.1    Eggermont, J.2
  • 20
    • 0027717956 scopus 로고
    • Characterization of human type I and type II IMP dehydrogenases
    • Carr, S.F.; Papp, E.; Wu, J.C.; Natsumeda, Y. Characterization of human type I and type II IMP dehydrogenases. J. Biol. Chem. 1993, 268, 27286-27290.
    • (1993) J. Biol. Chem , vol.268 , pp. 27286-27290
    • Carr, S.F.1    Papp, E.2    Wu, J.C.3    Natsumeda, Y.4
  • 21
    • 0016281889 scopus 로고
    • Human IMP dehydrogenase. Kinetics and regulatory properties
    • Holmes, E.; Pehlke, D.; Kelley, W. Human IMP dehydrogenase. Kinetics and regulatory properties. Biochim. Biophys. Acta 1974, 364, 209-217.
    • (1974) Biochim. Biophys. Acta , vol.364 , pp. 209-217
    • Holmes, E.1    Pehlke, D.2    Kelley, W.3
  • 23
    • 0347444723 scopus 로고    scopus 로고
    • MicroRNAs: Genomics, biogenesis, mechanism, and function
    • 116
    • Bartel, D.P. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 2004, 116, 281-297.
    • (2004) Cell , pp. 281-297
    • Bartel, D.P.1
  • 24
    • 0036289532 scopus 로고    scopus 로고
    • Eukaryotic mRNPs may represent posttranscriptional operons
    • Keene, J.D.; Tenenbaum, S.A. Eukaryotic mRNPs may represent posttranscriptional operons. Mol. Cell 2004, 9, 1161-1167.
    • (2004) Mol. Cell , vol.9 , pp. 1161-1167
    • Keene, J.D.1    Tenenbaum, S.A.2
  • 25
    • 0034687794 scopus 로고    scopus 로고
    • Identifying mRNA subsets in messenger ribonucleoprotein complexes by using cDNA arrays
    • Tenenbaum, S.A.; Carson, C.C.; Lager, P.J.; Keene, J.D. Identifying mRNA subsets in messenger ribonucleoprotein complexes by using cDNA arrays. Proc. Natl. Acad. Sci. USA 2000, 97, 14085-14090.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 14085-14090
    • Tenenbaum, S.A.1    Carson, C.C.2    Lager, P.J.3    Keene, J.D.4
  • 27
    • 0036223709 scopus 로고    scopus 로고
    • A phosphorylated cytoplasmic autoantigen, GW182, associates with a unique population of human mRNAs within novel cytoplasmic speckles
    • Eystathioy, T.; Chan, E.K.; Tenenbaum, S.A.; Keene, J.D.; Griffith, K.; Fritzler, M.J. A phosphorylated cytoplasmic autoantigen, GW182, associates with a unique population of human mRNAs within novel cytoplasmic speckles. Mol. Biol. Cell 2002, 13, 1338-1351.
    • (2002) Mol. Biol. Cell , vol.13 , pp. 1338-1351
    • Eystathioy, T.1    Chan, E.K.2    Tenenbaum, S.A.3    Keene, J.D.4    Griffith, K.5    Fritzler, M.J.6
  • 28
    • 0037050004 scopus 로고    scopus 로고
    • Ho, Y.; Gruhler, A.; Hellbut, A.; Bader, G.D.; Moore, L.; Adams, S.-L.; Millar, A.; Taylor, P.; Bennett, K.; Boutliller, K.; Yang, L.; Wolting, C.; Donaldson, I.; Scchandorff, S.; Shewnarane, J.; Vo, M.; Taggart, J.; Goudreault, M.; Muskat, B.; Alfarano, C.; Dewar, D.; Lin, Z.; Michalickova, K.; Willems, A.R.; Sasl, H.; Nielsen, P.A.; Rasmussen, K.J.; Andersen, J.R.; Johansen, L.E.; Hansens, L.K.; Jespersen, H.; Podtelejnikov, A.; Neilsen, E.; Crawford, J.; Poulsens, V.; Sorensen, B.D.; Matthiesen, J.; Hendrickson, R.C.; Gleeson, F.; Pawson, T.; Moran, M.F.; Durocher, D.; Mann, M.; Hogue, C.W.V.; Figeys, D.; Tyers, M. Systematic identification of protein complexes in Sacccharomyces cerevisiae by mass spectrometry. Nature 2002, 415, 180-183.
    • Ho, Y.; Gruhler, A.; Hellbut, A.; Bader, G.D.; Moore, L.; Adams, S.-L.; Millar, A.; Taylor, P.; Bennett, K.; Boutliller, K.; Yang, L.; Wolting, C.; Donaldson, I.; Scchandorff, S.; Shewnarane, J.; Vo, M.; Taggart, J.; Goudreault, M.; Muskat, B.; Alfarano, C.; Dewar, D.; Lin, Z.; Michalickova, K.; Willems, A.R.; Sasl, H.; Nielsen, P.A.; Rasmussen, K.J.; Andersen, J.R.; Johansen, L.E.; Hansens, L.K.; Jespersen, H.; Podtelejnikov, A.; Neilsen, E.; Crawford, J.; Poulsens, V.; Sorensen, B.D.; Matthiesen, J.; Hendrickson, R.C.; Gleeson, F.; Pawson, T.; Moran, M.F.; Durocher, D.; Mann, M.; Hogue, C.W.V.; Figeys, D.; Tyers, M. Systematic identification of protein complexes in Sacccharomyces cerevisiae by mass spectrometry. Nature 2002, 415, 180-183.
  • 29
    • 0141482078 scopus 로고    scopus 로고
    • Widespread cytoplasmic mRNA transport in yeast: Identification of 22 bud-localized transcripts using DNA microarray analysis
    • Shepard, K.A.; Gerber, A.P.; Jambhekar, A.; Takizawa, P.A.; Brown, P.O.; et al. Widespread cytoplasmic mRNA transport in yeast: identification of 22 bud-localized transcripts using DNA microarray analysis. Proc. Natl. Acad. Sci. USA 2003, 100, 11429-11434.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 11429-11434
    • Shepard, K.A.1    Gerber, A.P.2    Jambhekar, A.3    Takizawa, P.A.4    Brown, P.O.5
  • 30
    • 5044229348 scopus 로고    scopus 로고
    • Molecular mechanisms of translational control
    • Gebauer, F.; Hentze, M.W. Molecular mechanisms of translational control. Nat. Rev. Mol. Cell Biol. 2004, 5, 827-835.
    • (2004) Nat. Rev. Mol. Cell Biol , vol.5 , pp. 827-835
    • Gebauer, F.1    Hentze, M.W.2
  • 31
    • 17144424622 scopus 로고    scopus 로고
    • Translational control in stress and apoptosis
    • Holcik, M.; Sonenberg, N. Translational control in stress and apoptosis. Nat. Rev. Mol. Cell Biol. 2005, 6, 318-327.
    • (2005) Nat. Rev. Mol. Cell Biol , vol.6 , pp. 318-327
    • Holcik, M.1    Sonenberg, N.2
  • 32
    • 0033990346 scopus 로고    scopus 로고
    • Rhodopsin trafficking and its role in retinal dystrophies
    • Sung, C.H.; Tai, A.W. Rhodopsin trafficking and its role in retinal dystrophies. Int. Rev. Cytol. 2000, 195, 215-267.
    • (2000) Int. Rev. Cytol , vol.195 , pp. 215-267
    • Sung, C.H.1    Tai, A.W.2
  • 33
    • 0842269058 scopus 로고    scopus 로고
    • Cargo-carrying motor vehicles on the neuronal highway: Transport pathways and neurodegenerative disease
    • Gunawardena, S.; Goldstein, L.S. Cargo-carrying motor vehicles on the neuronal highway: transport pathways and neurodegenerative disease. J. Neurobiol. 2004, 58, 258-271.
    • (2004) J. Neurobiol , vol.58 , pp. 258-271
    • Gunawardena, S.1    Goldstein, L.S.2
  • 34
    • 18344371641 scopus 로고    scopus 로고
    • Moving messages: The intracellular localization of mRNAs
    • St. Johnston, D. Moving messages: the intracellular localization of mRNAs. Nat. Rev. Mol. Cell. Biol. 2005, 6, 363-375.
    • (2005) Nat. Rev. Mol. Cell. Biol , vol.6 , pp. 363-375
    • St. Johnston, D.1
  • 36
    • 0036890023 scopus 로고    scopus 로고
    • Intracellular mRNA localization: Motors move messages
    • Tekotte, H.; Davis, I. Intracellular mRNA localization: motors move messages. Trends Genet. 2002, 18, 636-642.
    • (2002) Trends Genet , vol.18 , pp. 636-642
    • Tekotte, H.1    Davis, I.2
  • 37
    • 0033860615 scopus 로고    scopus 로고
    • Mechanisms of RNA localization and translational regulation
    • Lipshitz, H.D.; Smibert, C.A. Mechanisms of RNA localization and translational regulation. Curr. Opin. Genet. Dev. 2000, 10, 476-488.
    • (2000) Curr. Opin. Genet. Dev , vol.10 , pp. 476-488
    • Lipshitz, H.D.1    Smibert, C.A.2
  • 41
    • 4444324795 scopus 로고    scopus 로고
    • Bringing the role of mRNA decay in the control of gene expression into focus
    • Wilusz, C.J.; Wilusz, J. Bringing the role of mRNA decay in the control of gene expression into focus. Trends Genet. 2004, 20, 491-497.
    • (2004) Trends Genet , vol.20 , pp. 491-497
    • Wilusz, C.J.1    Wilusz, J.2
  • 42
    • 7444272009 scopus 로고    scopus 로고
    • Messenger RNA turnover in eukaryotes: Pathways and enzymes
    • Meyer, S.; Temme, C.; Wahle, E. Messenger RNA turnover in eukaryotes: pathways and enzymes. Crit. Rev. Biochem. Mol. Biol. 2004, 39, 197-216.
    • (2004) Crit. Rev. Biochem. Mol. Biol , vol.39 , pp. 197-216
    • Meyer, S.1    Temme, C.2    Wahle, E.3
  • 45
    • 3242880192 scopus 로고    scopus 로고
    • Modulating expression of peripherin/rds in transgenic mice: Critical levels and the effect of overexpression
    • Nour, M.; Ding, X.Q.; Stricker, H.; Fliesler, S.J.; Naash, M.I. Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression. Invest. Ophthalmol. Vis. Sci. 2004, 45, 2514-2521.
    • (2004) Invest. Ophthalmol. Vis. Sci , vol.45 , pp. 2514-2521
    • Nour, M.1    Ding, X.Q.2    Stricker, H.3    Fliesler, S.J.4    Naash, M.I.5
  • 46
    • 0030831115 scopus 로고    scopus 로고
    • The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors
    • Cheng, T.; Peachey, N.S.; Li, S.; Goto, Y.; Cao, Y.; Naash, M.I. The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors. J. Neurosci. 1997, 17, 8118-8128.
    • (1997) J. Neurosci , vol.17 , pp. 8118-8128
    • Cheng, T.1    Peachey, N.S.2    Li, S.3    Goto, Y.4    Cao, Y.5    Naash, M.I.6
  • 47
    • 0036909093 scopus 로고    scopus 로고
    • The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci
    • Ingelfinger, D.; Arndt-Jovin, D.J.; Luhrmann, R.; Achsel, T. The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci. RNA 2002, 8, 1489-1501.
    • (2002) RNA , vol.8 , pp. 1489-1501
    • Ingelfinger, D.1    Arndt-Jovin, D.J.2    Luhrmann, R.3    Achsel, T.4
  • 48
    • 0037121926 scopus 로고    scopus 로고
    • Human Dcp2: A catalytically active mRNA decapping enzyme located in specific cytoplasmic structures
    • van Dijk, E.; Cougot, N.; Meyer, S.; Babajko, S.; Wahle, E.; Seraphin, B. Human Dcp2: a catalytically active mRNA decapping enzyme located in specific cytoplasmic structures. EMBO J. 2002, 21, 6915-6924.
    • (2002) EMBO J , vol.21 , pp. 6915-6924
    • van Dijk, E.1    Cougot, N.2    Meyer, S.3    Babajko, S.4    Wahle, E.5    Seraphin, B.6
  • 49
    • 0037968357 scopus 로고    scopus 로고
    • Decapping and decay of messenger RNA occur in cytoplasmic processing bodies
    • Sheth, U.; Parker, R. Decapping and decay of messenger RNA occur in cytoplasmic processing bodies. Science 2003, 300, 805-808.
    • (2003) Science , vol.300 , pp. 805-808
    • Sheth, U.1    Parker, R.2
  • 50
    • 2442566370 scopus 로고    scopus 로고
    • Cytoplasmic foci are sites of mRNA decay in human cells
    • Cougot, N.; Babajko, S.; Seraphin, B. Cytoplasmic foci are sites of mRNA decay in human cells. J. Cell Biol. 2004, 165, 31-40.
    • (2004) J. Cell Biol , vol.165 , pp. 31-40
    • Cougot, N.1    Babajko, S.2    Seraphin, B.3
  • 51
    • 0035912735 scopus 로고    scopus 로고
    • Bashirullah, A.; Cooperstock, R.L.Lipshitz, H.D. (2001) Spatial and temporal control of RNA stability. Proc. Natl. Acad. Sci. USA 2001, 98, 7025-7028.
    • Bashirullah, A.; Cooperstock, R.L.Lipshitz, H.D. (2001) Spatial and temporal control of RNA stability. Proc. Natl. Acad. Sci. USA 2001, 98, 7025-7028.
  • 53
    • 4444221565 scopus 로고    scopus 로고
    • UCSF Chimera- a visualization system for exploratory research and analysis
    • Meng, E.C.; Ferrin, T.E. UCSF Chimera- a visualization system for exploratory research and analysis. J. Comp. Chem. 2004, 25, 1605-1612.
    • (2004) J. Comp. Chem , vol.25 , pp. 1605-1612
    • Meng, E.C.1    Ferrin, T.E.2


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