World's Best Scientists 2026 revealed!
Patrícia Maciel

Patrícia Maciel

D-Index & Metrics

Neuroscience

D-Index
48
Citations
10448
World Ranking
6143
National Ranking
12

Molecular Biology

D-Index
47
Citations
10370
World Ranking
2731
National Ranking
4

Overview

Patrícia Maciel is affiliated with the University of Minho in Portugal. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Neuroscience. Within these disciplines, Maciel has focused extensively on Molecular Biology, Cellular and Molecular Neuroscience, Neurology, Genetics, and Aging. The main topics of their work include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genetics, Aging, and Longevity in Model Organisms, Parkinson's Disease Mechanisms and Treatments, Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, and Neuroinflammation and Neurodegeneration Mechanisms.

Maciel has contributed to a range of publications, with frequent appearances in bioRxiv (Cold Spring Harbor Laboratory), Biomedicines, Cells, RSBO, and the Proceedings of the National Academy of Sciences. Their scholarship also includes several recent papers, such as:

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, 2020, Cell
  • Rare coding variation provides insight into the genetic architecture and phenotypic context of autism, 2022, Nature Genetics
  • Positive allosteric modulation of indoleamine 2,3-dioxygenase 1 restrains neuroinflammation, 2020, Proceedings of the National Academy of Sciences
  • Leading the way in the nervous system: Lipid Droplets as new players in health and disease, 2020, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
  • Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis, 2020, Proceedings of the National Academy of Sciences

Among frequent collaborators, Maciel works with Andreia Teixeira-Castro, Sara Duarte-Silva, Marta D. Costa, Daniela Vilasboas-Campos, and Daniela Monteiro-Fernandes.

Best Publications

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Unknown

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  • Correlation between CAG repeat length and clinical features in Machado-Joseph disease

    Patrícia Maciel;Patrícia Maciel;Claudia Gaspar;Claudia Gaspar;Anita L. DeStefano;Isabel Silveira;Isabel Silveira

  • Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

    Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  • Identification of novel genetic causes of Rett syndrome-like phenotypes

    Fátima Lopes;Mafalda Barbosa;Adam Ameur;Gabriela Soares

  • Developmental absence of maxillary lateral incisors in the Portuguese population

    Teresa Pinho;Purifi cação Tavares;Patrícia Maciel;Cristina Pollmann

  • Improvement in the molecular diagnosis of Machado-Joseph disease

    Patrícia Maciel;Maria do Carmo Costa;Anabela Ferro;Marylène Rousseau

  • Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

    C. Gaspar;C. Gaspar;I. Lopes-Cendes;S. Hayes;J. Goto

  • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

    I. Silveira;I. Lopes-Cendes;S. Kish;P. Maciel;P. Maciel

  • Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways

    Andreia Teixeira-Castro;Michael Ailion;Ana Jalles;Heather R. Brignull

  • The genomic structure and expression of MJD, the Machado-Joseph disease gene

    Yaeko Ichikawa;Jun Goto;Masahira Hattori;Atsushi Toyoda

  • Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

    Fátima Torres;Mafalda Fernanda Cabral Santos Barbosa;P. Maciel

  • Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease.

    Anabela Silva-Fernandes;Sara Duarte-Silva;Andreia Neves-Carvalho;Marina Amorim

  • The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3’-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis

    Arpita Chatterjee;Saikat Saha;Anirban Chakraborty;Anabela Silva-Fernandes

  • APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers.

    R. M. Burwick;P. P. Ramsay;J. L. Haines;S. L. Hauser

  • Machado-Joseph disease gene products carrying different carboxyl termini.

    Jun Goto;Masahiko Watanabe;Yaeko Ichikawa;Su-Bog Yee

  • Inherited and acquired risk factors and their combined effects in pediatric stroke

    Sameiro Barreirinho;Anabela Ferro;Manuela Santos;E.lísio Costa

  • Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

    Teresa Temudo;Elisabete Ramos;Karin Dias;Clara Barbot

  • Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement

    P. Maciel;V. T. Cruz;M. Constante;M. Constante;I. Iniesta

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

    Luís Gales;Luísa Cortes;Carla Almeida;Carlos V. Melo

  • Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

    T. Temudo;P. Oliveira;M. Santos;K. Dias

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

    Ana João Rodrigues;Giovanni Coppola;Cláudia Santos;Maria Do Carmo Costa

  • Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.

    Rui Gao;Yongping Liu;Anabela Silva-Fernandes;Xiang Fang

Frequent Co-Authors

Jorge Sequeiros
Jorge Sequeiros University of Porto
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Iscia Lopes-Cendes
Iscia Lopes-Cendes State University of Campinas
Nuno Sousa
Nuno Sousa University of Minho
Elise B. Robinson
Elise B. Robinson Broad Institute
Thomas Werge
Thomas Werge University of Copenhagen
Michael E. Talkowski
Michael E. Talkowski Harvard University
Benjamin M. Neale
Benjamin M. Neale Harvard University
Joseph D. Buxbaum
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai
Stephen W. Scherer
Stephen W. Scherer University of Toronto

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying Molecular Biology in the USA can open doors to a variety of fulfilling career paths, including both research and applied sciences. For students interested in the intersection of biology and human services, exploring supplementary online degrees can broaden career opportunities.

Many graduates choose to complement their science background with people-focused degrees. An online child psychology degree is ideal for those passionate about working with children or youth in clinical or research settings.

If you're drawn to counseling careers, pursuing an online master's in counseling can provide essential skills for supporting individuals through health-related or personal challenges.

Further, the best online clinical psychology programs are designed for those who wish to combine scientific understanding with clinical practice.

For a broader focus, consider a masters in human services online, which prepares you for diverse roles in healthcare, nonprofit, and community organizations. These interdisciplinary programs can greatly enhance your ability to apply molecular biology knowledge in real-world settings and varied professional environments.

Best Scientists Citing Patrícia Maciel

Trending Scientists

Recently Published Articles