Carmo Costa , PhD
Biography
The Costa laboratory investigates mechanisms of neurodegeneration and conducts studies towards the development of therapeutics for neurodegenerative diseases.
Education
Post-doctoral fellow - Translational approaches for neurodegenerative diseases, Department of Neurology, University of Michigan, 2008
Ph.D. in Life and Biomedical Sciences, School of Medicine/ Life and Health sciences Research Institute, University of Minho, 2003
Licenciatura in Biochemistry, Faculty of Sciences/ Institute of Biomedical Sciences Abel Salazar, University of Porto, 1994
Employment
Assistant Professor (tenure system), Michigan State University, East Lansing, 2025 - Present
Research Assistant Professor , University of Michigan, Ann Arbor, 2017 - 2025
Research Investigator , University of Michigan, Ann Arbor, 2013 - 2017
Research Assistant, University of Porto, Porto, 1999 - 2003
Publications
Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease Annals of Neurology (2025)
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease. Neurobiology of disease (2024)
Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3 Disease Models & Mechanisms (2023)
Editorial: The role of posttranslational modifications in polyglutamine diseases. Frontiers in molecular neuroscience (2023)
Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease Cells (2023)
Regional and age-dependent changes in ubiquitination in cellular and mouse models of spinocerebellar ataxia type 3. Frontiers in molecular neuroscience (2023)
Blood DDIT4 and TRIM13 transcript levels mark the early stages of Machado-Joseph disease Biorxiv (2023)
Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model Biorxiv (2023)
Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3 Cells (2022)
Altered retinal structure and function in Spinocerebellar ataxia type 3. Neurobiology of disease (2022)
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 Autophagy (2021)
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy (2021)
Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein Neurobiology of Disease (2020)
In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3 Movement Disorders (2020)
Recent therapeutic prospects for Machado-Joseph disease Current Opinion in Neurology (2020)
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina Cell Reports (2020)
Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects. Journal of molecular neuroscience : MN (2019)
Methods of Treating Neurodegenerative Diseases (2019)
Antisense oligonucleotide therapy rescues aggresome formation in a novel Spinocerebellar Ataxia type 3 human embryonic stem cell line Biorxiv (2019)
Ataxin-3 links NOD2 and TLR2 mediated innate immune sensing and metabolism in myeloid cells Biorxiv (2019)
Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease Molecular Neurobiology (2019)
Corrigendum: A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript [Human Molecular Genetics, 24, (2015) (1211-1224)] doi: 10.1093/hmg/ddu532 Human Molecular Genetics (2017)
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript. Human molecular genetics (2017)
Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in drosophila models of Spinocerebellar Ataxia Type 3 Human Molecular Genetics (2017)
Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3 Brain (2016)
Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3 Neurobiology of Disease (2015)
Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells Human Molecular Genetics (2015)
New hope for therapy in neurodegenerative diseases Cell Research (2013)
Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice Molecular Therapy (2013)
Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease Molecular Therapy (2013)
Toward understanding Machado-Joseph disease Progress in Neurobiology (2012)
Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3 Journal of Neuroscience (2011)
Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death Biochimica Et Biophysica Acta Molecular Cell Research (2010)
Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels Plos One (2010)
Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3) Neurogenetics (2010)
Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population Clinical Genetics (2010)
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products Neurobiology of Disease (2010)
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3 FASEB Journal (2007)
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 Journal of Human Genetics (2006)
The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation Journal of Human Genetics (2006)
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology (2005)
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea Neurogenetics (2005)
Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal Human Heredity (2005)
Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3 Journal of Molecular Biology (2005)
Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene Genomics (2004)
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin Multiple Sclerosis (2004)
Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice European Journal of Human Genetics (2003)
Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population Journal of Human Genetics (2002)
Improvement in the molecular diagnosis of Machado-Joseph disease Archives of Neurology (2001)
Fundings
Investigating the efficacy of aripiprazole related compounds as a therapeutic option for SCA3
Development of allele-specific gene therapeutic targeting the pathogenic RNA associated with Spinocerebellar ataxia type 3
Definition of the polyglutamine protein ataxin-3 interactome in the human retina.
#1 Development of therapeutics for polyglutamine diseases/ #2 Elucidation of gain-of-function and loss-of-function mechanisms of polyglutamine diseases in the brain
NIK as a therapeutic target for Spinocerebellar ataxia type 3
Molecular Mechanisms of Neuroprotection in Polyglutamine-Dependent Degeneration
Identification of novel genes that modulate ATXN3 abundance
Apoptosis-related genes BCL2, BAX, AND TP53 as biomarkers of Spinocerebellar ataxia type 3 (SCA3)
Exploring the therapeutic capacity of Aripiprazole and related compounds for Machado-Joseph disease
Identification of therapeutic compounds for Spinocerebellar Ataxia type 3
Aripiprazole as a therapy for Spinocerebellar Ataxia type 3
Identification of predisposing CNS-penetrant therapeutic compounds for Spinocerebellar Ataxia Type 3
Mechanisms of Polyglutamine Neurodegeneration
Defining pathways that regulate levels of polyglutamine disease protein in MJD/SCA3
Unveiling pathways that regulate levels of polyglutamine disease protein in MJD/SCA3
Defining pathways that modulate levels of polyglutamine disease protein ATXN3 in MJD /SCA3
Developing a SCA3 Therapeutic: Small Molecules that Reduce Levels of Mutant Ataxin-3
Development of Therapeutic Strategies for Machado-Joseph Disease
Study of the mouse homologue gene that causes Machado-Joseph Disease
