Maria do Carmo Pereira da Costa

About

The Costa laboratory investigates mechanisms of neurodegeneration and conducts studies towards the development of therapeutics for neurodegenerative diseases.

Work

Michigan State University

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Assistant Professor (tenure system)

US

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University of Michigan

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Research Assistant Professor

US

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University of Michigan

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Research Investigator

US

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University of Porto

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Research Assistant

Portugal

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Education

University of Michigan

United States of America
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Post-doctoral fellow - Translational approaches for neurodegenerative diseases

University of Minho

Portugal
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Ph.D. in Life and Biomedical Sciences

University of Porto

Portugal
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Licenciatura in Biochemistry

Publications

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease

Annals of Neurology

journal-article

Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.

Neurobiology of disease

journal-article

Editorial: The role of posttranslational modifications in polyglutamine diseases.

Frontiers in molecular neuroscience

journal-article

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease

Cells

journal-article

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease

Cells

journal-article

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease

Cells

journal-article

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

Frontiers in molecular neuroscience

journal-article

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3

Disease Models & Mechanisms

journal-article

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

Frontiers in Molecular Neuroscience

journal-article

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3

Disease Models & Mechanisms

journal-article

Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3

Cells

journal-article

Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3

Cells

journal-article

Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3

Cells

journal-article

Altered retinal structure and function in Spinocerebellar ataxia type 3.

Neurobiology of disease

journal-article

Altered retinal structure and function in Spinocerebellar ataxia type 3.

Neurobiology of disease

journal-article

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Autophagy

journal-article

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

Cell Reports

journal-article

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

Cell Reports

journal-article

In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3

Movement Disorders

journal-article

In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3

Movement Disorders

journal-article

Recent therapeutic prospects for Machado-Joseph disease.

Current opinion in neurology

journal-article

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

Neurobiology of Disease

journal-article

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

Neurobiology of Disease

journal-article

Methods of Treating Neurodegenerative Diseases

patent

Ataxin-3 Links NOD2 and TLR2 Mediated Innate Immune Sensing and Metabolism in Myeloid Cells.

Frontiers in immunology

journal-article

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

Stem cell research

journal-article

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

journal-article

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

journal-article

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

journal-article

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

Molecular Neurobiology

journal-article

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

Molecular Neurobiology

journal-article

Methods of Treating Neurodegenerative Diseases

patent

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

Human molecular genetics

journal-article

Methods of Treating Neurodegenerative Diseases

patent

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

Human molecular genetics

journal-article

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

Human molecular genetics

journal-article

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

Human molecular genetics

journal-article

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

Brain : a journal of neurology

journal-article

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

Brain : a journal of neurology

journal-article

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

Human molecular genetics

journal-article

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

Human Molecular Genetics

journal-article

Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3.

Neurobiology of disease

journal-article

Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3.

Neurobiology of disease

journal-article

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

Human molecular genetics

journal-article

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

Human molecular genetics

journal-article

New hope for therapy in neurodegenerative diseases.

Cell research

journal-article

New hope for therapy in neurodegenerative diseases.

Cell research

journal-article

Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice.

Molecular therapy : the journal of the American Society of Gene Therapy

journal-article

Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice.

Molecular therapy : the journal of the American Society of Gene Therapy

journal-article

Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease.

Molecular therapy : the journal of the American Society of Gene Therapy

journal-article

Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease.

Molecular therapy : the journal of the American Society of Gene Therapy

journal-article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience

journal-article

Toward understanding Machado-Joseph disease.

Progress in neurobiology

journal-article

Toward understanding Machado-Joseph disease.

Progress in neurobiology

journal-article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience

journal-article

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

Neurobiology of disease

journal-article

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

journal-article

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

journal-article

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death.

Biochimica et biophysica acta

journal-article

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death.

Biochimica et biophysica acta

journal-article

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

PloS one

journal-article

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

PloS one

journal-article

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

Neurobiology of disease

journal-article

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Neurogenetics

journal-article

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Neurogenetics

journal-article

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

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

journal-article

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

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

journal-article

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

journal-article

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

journal-article

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

journal-article

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

journal-article

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Neurogenetics

journal-article

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Neurogenetics

journal-article

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

journal-article

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

journal-article

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Neurology

journal-article

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Neurology

journal-article

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.

Human heredity

journal-article

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.

Human heredity

journal-article

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

Genomics

journal-article

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

Genomics

journal-article

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

Multiple sclerosis (Houndmills, Basingstoke, England)

journal-article

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

Multiple sclerosis (Houndmills, Basingstoke, England)

journal-article

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

European journal of human genetics : EJHG

journal-article

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

European journal of human genetics : EJHG

journal-article

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

Journal of human genetics

journal-article

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

Journal of human genetics

journal-article

Improvement in the molecular diagnosis of Machado-Joseph disease.

Archives of neurology

journal-article

Improvement in the molecular diagnosis of Machado-Joseph disease.

Archives of neurology

journal-article

Maria do Carmo Pereira da Costa