SEARCH

SEARCH BY CITATION

References

  • 1
    Baumer D, Ansorge O, Almeida M & Talbot K (2010) The role of RNA processing in the pathogenesis of motor neuron degeneration. Expert Rev Mol Med 12, e21.
  • 2
    Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H et al. (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211215.
  • 3
    Chambers DM, Peters J & Abbott CM (1998) The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene. Proc Natl Acad Sci USA 95, 44634468.
  • 4
    Shultz LD, Sweet HO, Davisson MT & Coman DR (1982) ‘Wasted’, a new mutant of the mouse with abnormalities characteristic to ataxia telangiectasia. Nature 297, 402404.
  • 5
    Khalyfa A, Bourbeau D, Chen E, Petroulakis E, Pan J, Xu S & Wang E (2001) Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice. J Biol Chem 276, 2291522922.
  • 6
    Newbery HJ, Loh DH, O'Donoghue JE, Tomlinson VA, Chau YY, Boyd JA, Bergmann JH, Brownstein D & Abbott CM (2007) Translation elongation factor eEF1A2 is essential for post-weaning survival in mice. J Biol Chem 282, 2895128959.
  • 7
    Newbery HJ, Gillingwater TH, Dharmasaroja P, Peters J, Wharton SB, Thomson D, Ribchester RR & Abbott CM (2005) Progressive loss of motor neuron function in wasted mice: effects of a spontaneous null mutation in the gene for the eEF1 A2 translation factor. J Neuropathol Exp Neurol 64, 295303.
  • 8
    Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE & Burghes AH (2008) Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet 17, 10631075.
  • 9
    Maddatu TP, Garvey SM, Schroeder DG, Zhang W, Kim SY, Nicholson AI, Davis CJ & Cox GA (2005) Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival. Hum Mol Genet 14, 31793189.
  • 10
    Maddatu TP, Garvey SM, Schroeder DG, Hampton TG & Cox GA (2004) Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy. Hum Mol Genet 13, 11051115.
  • 11
    de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C et al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367, 19211929.
  • 12
    Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S et al. (2013) Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 54, 12701281.
  • 13
    Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 5763.
  • 14
    Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD & Al-Chalabi A (2009) The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published Loci. PLoS One 4, e8175.
  • 15
    Sacheck JM, Ohtsuka A, McLary SC & Goldberg AL (2004) IGF-I stimulates muscle growth by suppressing protein breakdown and expression of atrophy-related ubiquitin ligases, atrogin-1 and MuRF1. Am J Physiol Endocrinol Metab 287, E591E601.
  • 16
    Foletta VC, White LJ, Larsen AE, Leger B & Russell AP (2011) The role and regulation of MAFbx/atrogin-1 and MuRF1 in skeletal muscle atrophy. Pflugers Arch 461, 325335.
  • 17
    Murton AJ (2011) Muscle atrophy; more than one string to MuRF1's bow? J Physiol 589, 4635.
  • 18
    Bodine SC, Latres E, Baumhueter S, Lai VK, Nunez L, Clarke BA, Poueymirou WT, Panaro FJ, Na E, Dharmarajan K et al. (2001) Identification of ubiquitin ligases required for skeletal muscle atrophy. Science 294, 17041708.
  • 19
    Forss-Petter S, Danielson PE, Catsicas S, Battenberg E, Price J, Nerenberg M & Sutcliffe JG (1990) Transgenic mice expressing beta-galactosidase in mature neurons under neuron-specific enolase promoter control. Neuron 5, 187197.
  • 20
    de Luca C, Kowalski TJ, Zhang Y, Elmquist JK, Lee C, Kilimann MW, Ludwig T, Liu SM & Chua SC Jr (2005) Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. J Clin Invest 115, 34843493.
  • 21
    Brennan KJ & Hardeman EC (1993) Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J Biol Chem 268, 719725.
  • 22
    Castillo MB, Berchtold MW, Rulicke T, Schwaller B, Gotzos V, Pinzani M, Reichen J & Celio MR (1997) Ectopic expression of the calcium-binding protein parvalbumin in mouse liver endothelial cells. Hepatology 25, 11541159.
  • 23
    Do Carmo S, Fournier D, Mounier C & Rassart E (2009) Human apolipoprotein D overexpression in transgenic mice induces insulin resistance and alters lipid metabolism. Am J Physiol Endocrinol Metab 296, E802E811.
  • 24
    Hyldahl RD, O'Fallon KS, Schwartz LM & Clarkson PM (2010) Knockdown of metallothionein 1 and 2 does not affect atrophy or oxidant activity in a novel in vitro model. J Appl Physiol 109, 15151523.
  • 25
    Calvo AC, Manzano R, Atencia-Cibreiro G, Olivan S, Munoz MJ, Zaragoza P, Cordero-Vazquez P, Esteban-Perez J, Garcia-Redondo A & Osta R (2012) Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice. PLoS One 7, e32632.
  • 26
    Sedehizade F, Klocke R & Jockusch H (1997) Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle Nerve 20, 186194.
  • 27
    Kahns S, Lund A, Kristensen P, Knudsen CR, Clark BF, Cavallius J & Merrick WC (1998) The elongation factor 1 A-2 isoform from rabbit: cloning of the cDNA and characterization of the protein. Nucleic Acids Res 26, 18841890.
  • 28
    Tinsley JM, Potter AC, Phelps SR, Fisher R, Trickett JI & Davies KE (1996) Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 384, 349353.
  • 29
    Mo K, Razak Z, Rao P, Yu Z, Adachi H, Katsuno M, Sobue G, Lieberman AP, Westwood JT & Monks DA (2010) Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. PLoS One 5, e12922.
  • 30
    Rivera-Feliciano J, Lee KH, Kong SW, Rajagopal S, Ma Q, Springer Z, Izumo S, Tabin CJ & Pu WT (2006) Development of heart valves requires Gata4 expression in endothelial-derived cells. Development 133, 36073618.
  • 31
    Dong J, Sulik KK & Chen SY (2008) Nrf2-mediated transcriptional induction of antioxidant response in mouse embryos exposed to ethanol in vivo: implications for the prevention of fetal alcohol spectrum disorders. Antioxid Redox Signal 10, 20232033.
  • 32
    Kostrominova TY (2010) Advanced age-related denervation and fiber-type grouping in skeletal muscle of SOD1 knockout mice. Free Radic Biol Med 49, 15821593.
  • 33
    Yamamoto-Mizuma S, Wang GX & Hume JR (2004) P2Y purinergic receptor regulation of CFTR chloride channels in mouse cardiac myocytes. J Physiol 556, 727737.
  • 34
    Wishart TM, Macdonald SH, Chen PE, Shipston MJ, Coleman MP, Gillingwater TH & Ribchester RR (2007) Design of a novel quantitative PCR (QPCR)-based protocol for genotyping mice carrying the neuroprotective Wallerian degeneration slow (Wlds) gene. Mol Neurodegener 2, 21.
  • 35
    Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, Kubista M, Mueller R, Nolan T, Pfaffl MW, Shipley GL et al. (2009) The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem 55, 611622.
  • 36
    Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A & Speleman F (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3, RESEARCH0034.