All articles in PubMed
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
*Co-Senior and co-corresponding equally contributing authors
Recent therapeutic prospects for Machado-Joseph disease.
Maria do Carmo Costa
Current Opin Neurol. 2020 Aug;33(4):519-526. doi: 10.1097/WCO.0000000000000832.
PMID: 32657894
In vivo molecular signatures of cerebellar pathology in Spinocerebellar ataxia type 3.
Maria do Carmo Costa, Maria Radzwion, Hayley S. McLoughlin, Naila S. Ashraf, Svetlana Fischer, Vikram G. Shakkottai, Patricia Maciel, Henry L. Paulson, Gulin Öz.
Mov Disord. 2020 Oct;35(10):1774-1786. doi: 10.1002/mds.28140. Epub 2020 Jul 4.
PMID: 32621646
Naila S. Ashraf, Joanna R. Sutton, Yemen Yang, Bedri Ranxhi, Kozeta Libohova, Emily D. Shaw, Anna J. Barget, Sokol V. Todi, Henry L. Paulson, Maria do Carmo Costa.
Neurobiol Dis. 2020 Apr;137:104697. doi: 10.1016/j.nbd.2019.104697. Epub 2019 Nov 26.
PMID: 31783119
Ataxin-3 Links NOD2 and TLR2 Mediated Innate Immune Sensing and Metabolism in Myeloid Cells.
Chapman TP, Corridoni D, Shiraishi S, Pandey S, Aulicino A, Wigfield S, do Carmo Costa M, Thézénas ML, Paulson H, Fischer R, Kessler BM, Simmons A.
Front Immunol. 2019 Jul 19;10:1495. doi: 10.3389/fimmu.2019.01495. eCollection 2019.
PMID: 31379806
Moore LR, Keller L, Bushart DD, Delatorre RG, Li D, McLoughlin HS, do Carmo Costa M, Shakkottai VG, Smith GD, Paulson HL.
Stem Cell Res. 2019 Jul 16;39:101504. doi: 10.1016/j.scr.2019.101504. [Epub ahead of print]
PMID: 31374463
Ferreira AF, Raposo M, Vasconcelos J, Costa MDC, Lima M.
J Mol Neurosci. 2019 Jul 8. doi: 10.1007/s12031-019-01374-0. [Epub ahead of print]
PMID: 31286408
Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease.
Ashraf NS, Duarte-Silva S, Shaw ED, Maciel P, Paulson HL, Teixeira-Castro A, Costa MDC.
Mol Neurobiol. 2019 May;56(5):3690-3701. doi: 10.1007/s12035-018-1331-2. Epub 2018 Sep 4.
PMID: 30187384
Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Carmo Costa MD, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL.
Hum Mol Genet. 2017 Aug 15;26(16):3232-3233. doi: 10.1093/hmg/ddx176. No abstract available.
PMID: 30187384
Sutton JR, Blount JR, Libohova K, Tsou WL, Joshi GS, Paulson HL, Costa MDC, Scaglione KM, Todi SV.
Hum Mol Genet. 2017 Apr 15;26(8):1419-1431. doi: 10.1093/hmg/ddx039.
PMID: 28158474
Costa MDC, Ashraf NS, Fischer S, Yang Y, Schapka E, Joshi G, McQuade TJ, Dharia RM, Dulchavsky M, Ouyang M, Cook D, Sun D, Larsen MJ, Gestwicki JE, Todi SV, Ivanova MI, Paulson HL.
Brain. 2016 Nov 1;139(11):2891-2908. doi: 10.1093/brain/aww228.
PMID: 27645800
Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3.
Zeng L, Wang B, Merillat SA, Minakawa EN, Perkins MD, Ramani B, Tallaksen-Greene SJ, Costa MDC, Albin RL, Paulson HL.
Neurobiol Dis. 2015 Oct;82:281-288. doi: 10.1016/j.nbd.2015.06.017. Epub 2015 Jun 30.
PMID: 26141599
Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL.
Hum Mol Genet. 2015 Mar 1;24(5):1211-24. doi: 10.1093/hmg/ddu532. Epub 2014 Oct 15. Erratum in: Hum Mol Genet. 2017 Aug 15;26(16):3232-3233.
PMID: 25320121
Neves-Carvalho A, Logarinho E, Freitas A, Duarte-Silva S, Costa Mdo C, Silva-Fernandes A, Martins M, Serra SC, Lopes AT, Paulson HL, Heutink P, Relvas JB, Maciel P.
Hum Mol Genet. 2015 Jan 1;24(1):100-17. doi: 10.1093/hmg/ddu422. Epub 2014 Aug 20.
PMID: 25143392
New hope for therapy in neurodegenerative diseases.
do Carmo Costa M, Paulson HL.
Cell Res. 2013 Oct;23(10):1159-60. doi: 10.1038/cr.2013.96. Epub 2013 Jul 23.
PMID: 23877406
Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice.
Rodríguez-Lebrón E, Costa Mdo C, Luna-Cancalon K, Peron TM, Fischer S, Boudreau RL, Davidson BL, Paulson HL.
Mol Ther. 2013 Oct;21(10):1909-18. doi: 10.1038/mt.2013.152. Epub 2013 Jul 3. Erratum in: Mol Ther. 2014 Apr;22(4):891. Costa, Maria doCarmo [corrected to Costa, Maria do Carmo].
PMID: 23820820
Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease.
Costa Mdo C, Luna-Cancalon K, Fischer S, Ashraf NS, Ouyang M, Dharia RM, Martin-Fishman L, Yang Y, Shakkottai VG, Davidson BL, Rodríguez-Lebrón E, Paulson HL.
Mol Ther. 2013 Oct;21(10):1898-908. doi: 10.1038/mt.2013.144. Epub 2013 Jun 14.
PMID: 23765441

Toward understanding Machado-Joseph disease.
Costa Mdo C, Paulson HL.
Prog Neurobiol. 2012 May;97(2):239-57. doi: 10.1016/j.pneurobio.2011.11.006. Epub 2011 Nov 23. Review.
PMID: 22133674
Shakkottai VG, do Carmo Costa M, Dell’Orco JM, Sankaranarayanan A, Wulff H, Paulson HL.
J Neurosci. 2011 Sep 7;31(36):13002-14. doi: 10.1523/JNEUROSCI.2789-11.2011.
PMID: 21900579
do Carmo Costa M, Bajanca F, Rodrigues AJ, Tomé RJ, Corthals G, Macedo-Ribeiro S, Paulson HL, Logarinho E, Maciel P.
PLoS One. 2010 Jul 23;5(7):e11728. doi: 10.1371/journal.pone.0011728.
PMID: 20668528
Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death.
Rodrigues AJ*, do Carmo Costa M*, Silva TL, Ferreira D, Bajanca F, Logarinho E, Maciel P.
*These authors contributed equally to this work.
Biochim Biophys Acta. 2010 Oct;1803(10):1154-63. doi: 10.1016/j.bbamcr.2010.07.004. Epub 2010 Jul 15.
PMID: 20637808
Silva-Fernandes A*, Costa Mdo C*, Duarte-Silva S*, Oliveira P, Botelho CM, Martins L, Mariz JA, Ferreira T, Ribeiro F, Correia-Neves M, Costa C, Maciel P.
*These authors contributed equally to this work.
Neurobiol Dis. 2010 Oct;40(1):163-76. doi: 10.1016/j.nbd.2010.05.021. Epub 2010 May 25.
PMID: 20510362
Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P, Santos LR, Simões N, Kay T, Vasconcelos J, Maciel P, Lima M.
Neurogenetics. 2010 May;11(2):193-202. doi: 10.1007/s10048-009-0216-y. Epub 2009 Aug 28.
PMID: 19714377
Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto-Basto J, Alonso I.
Clin Genet. 2010 Oct;78(4):381-7. doi: 10.1111/j.1399-0004.2010.01388.x.
PMID: 20236117
Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P.
FASEB J. 2007 Apr;21(4):1126-36. Epub 2007 Jan 18.
PMID: 17234717
Costa Mdo C, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P.
J Hum Genet. 2006;51(8):645-51. Epub 2006 Jul 21.
PMID: 16858508
Costa MC, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A.
J Hum Genet. 2006;51(3):189-95. Epub 2005 Dec 22.
PMID: 16372132
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.
Lima M, Costa MC, Montiel R, Ferro A, Santos C, Silva C, Bettencourt C, Sousa A, Sequeiros J, Coutinho P, Maciel P.
Hum Hered. 2005;60(3):156-63. Epub 2005 Dec 6.
PMID: 16340213
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P.
Neurogenetics. 2005 Dec;6(4):209-15. Epub 2005 Oct 12.
PMID: 16220345
Gales L, Cortes L, Almeida C, Melo CV, Costa MC, Maciel P, Clarke DT, Damas AM, Macedo-Ribeiro S.
J Mol Biol. 2005 Oct 28;353(3):642-54.
PMID: 16194547
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, Sousa N, Sequeiros J, Coutinho P, Santos MM.
Neurology. 2005 Aug 23;65(4):603-5.
PMID: 16116125
Costa MC, Gomes-da-Silva J, Miranda CJ, Sequeiros J, Santos MM, Maciel P.
Genomics. 2004 Aug;84(2):361-73.
PMID: 15233999
Santos M, Costa MC, Edite Rio M, José Sá M, Monteiro M, Valença A, Sá A, Dinis J, Figueiredo J, Bigotte de Almeida L, Valongueiro A, Coelho I, Matamá MT, Pinto-Basto J, Sequeiros J, Maciel P.
Mult Scler. 2004 Apr;10(2):153-7.
PMID: 15124760
Costa MC, Magalhães P, Ferreirinha F, Guimarães L, Januário C, Gaspar I, Loureiro L, Vale J, Garrett C, Regateiro F, Magalhães M, Sousa A, Maciel P, Sequeiros J.
Eur J Hum Genet. 2003 Nov;11(11):872-8.
PMID: 14571273
Costa MC, Sequeiros J, Maciel P.
J Hum Genet. 2002;47(4):205-7.
PMID: 12166658
Improvement in the molecular diagnosis of Machado-Joseph disease.
Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J.
Arch Neurol. 2001 Nov;58(11):1821-7.
PMID: 11708990