Preprints
Blood neurofilament light chain levels are associated with disease progression in a SCA3 mouse model
*Equally contributing senior and corresponding authors
All articles in PubMed
*Corresponding authors
Volume 16 – 2023, doi: 10.3389/fnmol.2023.1154203
Sleep alterations in a mouse model of Spinocerebellar ataxia type 3
*Corresponding authors
Altered retinal structure and function in Spinocerebellar ataxia type 3
*Equally contributing senior and corresponding authors
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
*Equally contributing senior and corresponding authors
Recent therapeutic prospects for Machado-Joseph disease.
Maria do Carmo Costa.
Current Opinion in Neurology 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.
*Corresponding author
Movement Disorders 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*.
*Corresponding authors
Neurobiology of Disease 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.
Frontiers in Immunology 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 Research 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*.
*Corresponding authors
Molecular Neurobiology 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.
Human Molecular Genetics 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.
Human Molecular Genetics 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*.
*Corresponding authors
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.
Neurobiology of Disease 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.
Human Molecular Genetics 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.
Human Molecular Genetics 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.
Maria do Carmo Costa*, Henry L. Paulson*.
*Corresponding authors
Cell Research 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.
Molecular Therapy 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*.
*Corresponding authors
Molecular Therapy 2013 Oct;21(10):1898-908. doi: 10.1038/mt.2013.144. Epub 2013 Jun 14.
PMID: 23765441

Toward understanding Machado-Joseph disease.
Maria do Carmo Costa*, Henry L. Paulson*.
*Corresponding authors
Progress in Neurobiology 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.
The Journal of Neuroscience 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.
Biochimica et Biophysica Acta (BBA) – Molecular Cell Research 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.
Neurobiology of Disease 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.
Clinical Genetics 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.
The FASEB Journal 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.
Journal of Human Genetics 2006;51(8):645-51. Epub 2006 Jul 21.
PMID: 16858508
Costa MC, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A.
Journal of Human Genetics 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.
Human Heredity 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.
Journal of Molecular Biology 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.
Multiple Sclerosis 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.
European Journal of Human Genetics 2003 Nov;11(11):872-8.
PMID: 14571273
Costa MC, Sequeiros J, Maciel P.
Journal of Human Genetics 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.
Archives of Neurolology 2001 Nov;58(11):1821-7.
PMID: 11708990