Elodie Martin - EPHE

Nucifora FC, Jr., Sasaki M, Peters MF, Huang H, Cooper JK, Yamada M, et al. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 2001; 291: 2423-2428.
Ordway JM, Tallaksen-Greene S, Gutekunst CA, Bernstein EV, Cearley JA, Wiener HW, et al. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 1997; 91: 753-763.
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Jr., Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature.Genetics 1993; 4: 221-226.
Osterwalder T, Yoon KS, White BH, Keshishian H. A conditional tissue-specific transgene expression system using inducible GAL4. Proc.Natl.Acad.Sci.U.S.A 2001; 98: 12596-12601.
Palhan VB, Chen S, Peng GH, Tjernberg A, Gamper AM, Fan Y, et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc.Natl.Acad.Sci.U.S.A 2005; 102: 8472-8477.
Paulson HL. If it's not one thing, it's another. Nat Genet 2006; 38: 743-4.
Paulson HL, Das SS, Crino PB, Perez MK, Patel SC, Gotsdiner D, et al. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Annals.of.Neurology 1997a; 41: 453-462.
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997b; 19: 333-344.
Peel AL, Rao RV, Cottrell BA, Hayden MR, Ellerby LM, Bredesen DE. Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Human.Molecular.Genetics 2001; 10: 1531-1538.
Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc.Natl.Acad.Sci.U.S.A. 1994; 91: 5355-5358.
Perutz MF, Pope BJ, Owen D, Wanker EE, Scherzinger E. Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques. Proc.Natl.Acad.Sci.U.S.A 2002; 99: 5596-5600.
Pratt RTC, Pratt RTC. The genetics of neurological disorders. London: Oxford University Press, 1967.
Quigley CA, Friedman KJ, Johnson A, Lafreniere RG, Silverman LM, Lubahn DB, et al. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J Clin.Endocrinol.Metab. 1992; 74: 927-933.
Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004; 36: 585-95.
Regad T, Chelbi-Alix MK. Role and fate of PML nuclear bodies in response to interferon and viral infections. Oncogene 2001; 20: 7274-86.
Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW. The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol. 1997; 7: 901-926.
Ross CA. When more is less: pathogenesis of glutamine repeat, neurodegenerative diseases. Neuron 1995; 15: 493-496.
Ross CA, Poirier MA. Protein aggregation and neurodegenerative disease. Nat Med 2004; 10 Suppl: S10-7.
Rubin GM, Spradling AC. Vectors for P element-mediated gene transfer in Drosophila. Nucleic Acids Res 1983; 11: 6341-51.
Sanchez I, Xu CJ, Juo P, Kakizaka A, Blenis J, Yuan J. Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 1999; 22: 623-633.
Sato K, Kashihara K, Okada S, Ikeuchi T, Tsuji S, Shomori T, et al. Does homozygosity advance the onset of dentatorubral- pallidoluysian atrophy? Neurology 1995; 45: 1934-1936.
Saudou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998; 95: 55-66.
Savouret C, Brisson E, Essers J, Kanaar R, Pastink A, te Riele H, et al. CTG repeat instability and size variation timing in DNA repair-deficient mice. Embo J 2003; 22: 2264-73.
Savouret C, Garcia-Cordier C, Megret J, te Riele H, Junien C, Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol 2004; 24: 629-37.
Scheel H, Tomiuk S, Hofmann K. Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Hum Mol Genet 2003; 12: 2845-52.
Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90: 549-558.
Scherzinger E, Sittler A, Schweiger K, Heiser V, Lurz R, Hasenbank R, et al. Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology. Proc.Natl.Acad.Sci.U.S.A. 1999; 96: 4604-4609.
Schmidt T, Lindenberg KS, Krebs A, Schols L, Laccone F, Herms J, et al. Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Annals.of.Neurology 2002; 51: 302-310.
Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, et al. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell 2006; 127: 697-708.
Shelbourne PF, Killeen N, Hevner RF, Johnston HM, Tecott L, Lewandoski M, et al. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet 1999; 8: 763-774.
Shibata H, Huynh DP, Pulst SM. A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol.Genet 2000; 9: 1303-1313.
Shiels C, Islam SA, Vatcheva R, Sasieni P, Sternberg MJ, Freemont PS, et al. PML bodies associate specifically with the MHC gene cluster in interphase nuclei. J Cell Sci 2001; 114: 3705-16.
Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix- associated structures. Nature 1997; 389: 971-974.
Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am.J.Pathol. 2001; 159: 905-913.
Sobczak K, de Mezer M, Michlewski G, Krol J, Krzyzosiak WJ. RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res 2003; 31: 5469-82.
Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity [letter]. J Neurol.Neurosurg.Psychiatry 1996; 60: 354-356.
Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 2003; 126: 946-955.
Stenoien DL, Cummings CJ, Adams HP, Mancini MG, Patel K, DeMartino GN, et al. Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone. Hum Mol Genet 1999; 8: 731-741.
Stevanin G, David G, Abbas N, Agid Y, Brice A, Yvert G. Ataxie cérébelleuse autosomique dominante avec dystrophie maculaire progressive: un modèle d'étude des maladies dues à une expansion de polyglutamine. médecine/sciences 1998; 14: 758-763.
Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur.J Hum Genet 2000; 8: 4-18.
Stevanin G, Trottier Y, Cancel G, Durr A, David G, Didierjean O, et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Human.Molecular.Genetics 1996; 5: 1887-1892.
Strom AL, Forsgren L, Holmberg M. A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Neurobiol.Dis. 2005.
Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, et al. PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. Neurobiol Dis 2003; 13: 230-237.
Takahashi J, Fujigasaki H, Zander C, El Hachimi KH, Stevanin G, Durr A, et al. Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. Brain 2002; 125: 1534-1543.
Takeyama K, Ito S, Yamamoto A, Tanimoto H, Furutani T, Kanuka H, et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002; 35: 855-864.
Tarlac V, Storey E. Role of proteolysis in polyglutamine disorders. J Neurosci Res 2003; 74: 406-16.
Taroni F, DiDonato S. Pathways to motor incoordination: the inherited ataxias. Nat.Rev.Neurosci. 2004; 5: 641-655.
Taylor J, Grote SK, Xia J, Vandelft M, Graczyk J, Ellerby LM, et al. Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal. J Biol Chem 2006; 281: 2730-9.
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-6.
Tsai CC, Kao HY, Mitzutani A, Banayo E, Rajan H, McKeown M, et al. Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors. Proc.Natl.Acad.Sci.U.S.A 2004; 101: 4047-4052.
Vonsattel JP, DiFiglia M. Huntington disease. J Neuropathol Exp Neurol 1998; 57: 369-84.
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP, Jr. Neuropathological classification of Huntington's disease. Journal.of.Neuropathology.&.Experimental.Neurology 1985; 44: 559,-77.
Warrick JM, Chan HY, Gray-Board GL, Chai Y, Paulson HL, Bonini NM. Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70. Nat.Genet 1999; 23: 425-428.
Warrick JM, Morabito LM, Bilen J, Gordesky-Gold B, Faust LZ, Paulson HL, et al. Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol Cell 2005; 18: 37-48.
Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, et al. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 1998; 93: 939-949.
Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, et al. Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J.Biol.Chem. 1998; 273: 9158-9167.
Wellington CL, Hayden MR. Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches. Clin Genet 2000; 57: 1-10.
Wellington CL, Singaraja R, Ellerby L, Savill J, Roy S, Leavitt B, et al. Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol.Chem. 2000; 275: 19831-19838.
Wells RD, Warren ST. Genetic instabilities and hereditary neurological diseases. San Diego: Academic press, 1998.
Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, et al. Homozygotes for Huntington's disease. Nature 1987; 326: 194-197.
Whitney A, Lim M, Kanabar D, Lin JP. Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise. Dev Med Child Neurol 2007; 49: 140-3.
Woulfe JM. Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress. Neuropathol Appl Neurobiol 2007; 33: 2-42.
Yamamoto A, Lucas JJ, Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 2000; 101: 57-66.
Ying M, Xu R, Wu X, Zhu H, Zhuang Y, Han M, et al. Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA. J Biol Chem 2006; 281: 12580-6.
Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 2003; 37: 383-401.
Yvert G, Lindenberg KS, Devys D, Helmlinger D, Landwehrmeyer GB, Mandel JL. SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Hum Mol Genet 2001; 10: 1679-1692.
Yvert G, Lindenberg KS, Picaud S, Landwehrmeyer GB, Sahel JA, Mandel JL. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol.Genet 2000; 9: 2491-2506.
Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, et al. Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Human.Molecular.Genetics 2001; 10: 2569-2579.
Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature.Genetics 1995; 11: 155-163.
Zhang S, Xu L, Lee J, Xu T. Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell 2002a; 108: 45-56.
Zhang Y, Monckton DG, Siciliano MJ, Connor TH, Meistrich ML. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum Mol Genet 2002b; 11: 791-8.
Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet 2002; 18: 463-71.
Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annu.Rev.Neurosci. 2000; 23:: 217-247.
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, et al. Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease. Science 2001.
Zuccato C, Tartari M, Crotti A, Goffredo D, Valenza M, Conti L, et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet 2003; 35: 76-83.
EPHE Banque de Monographies SVT 14