Publications

Preprints

Blood neurofilament light chain levels are associated with disease progression in a SCA3 mouse model

David Mengel#, Isabel G. Wellik#, Kristen H. Shuster, Sabrina I. Jarrah, Madeleine Wacker, Naila S. Ashraf, Gulin Öz, Matthis Synofzik*, Maria do Carmo Costa*, Hayley S. McLoughlin*.

#Equally contributing first authors

*Equally contributing senior and corresponding authors

Under review – Disease Models & Mechanisms
bioRxiv March 2023. doi.org/10.1101/2023.02.28.530463

All articles in PubMed

Regional and age-dependent changes in ubiquitination in cellular and mouse models of Spinocerebellar ataxia type 3

Haiyang Luo, Sokol V. Todi, Henry L. Paulson*,Maria do Carmo Costa*.

*Corresponding authors

Frontiers in Molecular Neuroscience, Section Brain Disease Mechanisms
Volume 16 – 2023,  doi: 10.3389/fnmol.2023.1154203

Sleep alterations in a mouse model of Spinocerebellar ataxia type 3

Maria-Efstratia Tsimpanouli*, Anjesh Ghimire, Anna J. Barget, Ridge Weston, Henry L. Paulson, Maria do Carmo Costa*, Brendon O. Watson*.

*Corresponding authors

Cells 2022 Oct 5;11(19):3132. doi: 10.3390/cells11193132.
PMID: 36231095

Altered retinal structure and function in Spinocerebellar ataxia type 3

Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, Marc Figueras-Roca, Bernardo Sánchez-Dalmau, Esteban Muñoz, Naila S. Ashraf, Ana F. Ferreira, Naheed Khan, Gemma Marfany*, Maria do Carmo Costa*. 

*Equally contributing senior and corresponding authors

Neurobiology of Disease 2022 Aug;170:105774. doi: 10.1016/j.nbd.2022.105774.
PMID: 35605759

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Daniel J. Klionsky, …, Maria do Carmo Costa, et al… 

Autophagy 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280.
PMID: 33634751

The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina

Vasileios Toulis, Sílvia García-Monclús, Carlos de la Peña-Ramírez, Rodrigo Arenas-Galnares, Josep F Abril, Sokol V Todi, Naheed Khan, Alejandro Garanto, Maria do Carmo Costa*, Gemma Marfany*.

*Equally contributing senior and corresponding authors

Cell Reports 2020 Nov 10;33(6):108360. doi: 10.1016/j.celrep.2020.108360.
PMID: 33176149

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

Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar ataxia type 3 disease protein.

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

Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line.

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

Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects.

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

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

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

Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.

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

Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3.

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

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

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

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.

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

ITI Molecular Therapy October 2013
Highlight of our two articles published in Molecular Therapy, October 2013.

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

Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3.

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

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels.

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

Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products.

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

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

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

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

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

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

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

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.

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

Towards a structural understanding of the fibrillization pathway in Machado-Joseph’s disease: trapping early oligomers of non-expanded ataxin-3.

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

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.

Costa MC, Gomes-da-Silva J, Miranda CJ, Sequeiros J, Santos MM, Maciel P.

Genomics 2004 Aug;84(2):361-73.

PMID: 15233999

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin.

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

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.

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

Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.

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

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