World's Best Scientists 2026 revealed!

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Genetics

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53
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National Ranking
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Biology and Biochemistry

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65
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Overview

Aurora Pujol is affiliated with the Institut d'Investigació Biomédica de Bellvitge in Spain. Their research activity spans multiple domains within biochemistry, genetics, molecular biology, and medicine. A significant portion of their published work addresses infectious diseases and immunology, with a focus on molecular biology and genetics.

The scientist has contributed to research on SARS-CoV-2 and COVID-19, participating in studies that explore the genetic and immunological determinants of critical COVID-19 pneumonia as well as inborn errors contributing to severe outcomes in infected individuals. Their work also encompasses investigations into mitochondrial function and pathology, RNA regulation, splicing, and genomics of rare diseases.

Recent notable publications include:

  • "X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19" (2021, Science Immunology)
  • "Human genetic and immunological determinants of critical COVID-19 pneumonia" (2022, Nature)
  • "A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection" (2020, Cell)
  • "Accelerated biological aging in COVID-19 patients" (2022, Nature Communications)
  • "Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children" (2022, Science)

Frequent coauthors in their collaborative research include Agatha Schlüter, Laura Planas-Serra, Montserrat Ruíz, Paul Bastard, and Giuseppe Novelli.

The scientist publishes regularly in venues such as bioRxiv (Cold Spring Harbor Laboratory), Journal of Clinical Immunology, Brain, Nature Communications, and EBioMedicine, reflecting a range of interests from preliminary biomolecular findings to clinical immunology and neuroscience.

Main fields of study for their work are:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Subfields prominently include:

  • Molecular Biology
  • Infectious Diseases
  • Genetics
  • Immunology
  • Epidemiology

The primary research topics addressed include:

  • SARS-CoV-2 and COVID-19 Research
  • COVID-19 Clinical Research Studies
  • Mitochondrial Function and Pathology
  • Peroxisome Proliferator-Activated Receptors
  • RNA regulation and disease
  • RNA Research and Splicing
  • Genomics and Rare Diseases

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Qian Zhang;Paul Bastard;Paul Bastard;Zhiyong Liu;Jérémie Le Pen

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths.

    Paul Bastard;Adrian Gervais;Adrian Gervais;Tom Le Voyer;Tom Le Voyer;Jérémie Rosain;Jérémie Rosain

  • X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

    Takaki Asano;Bertrand Boisson;Bertrand Boisson;Bertrand Boisson;Fanny Onodi;Daniela Matuozzo;Daniela Matuozzo

  • ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

    Stephan Kemp;Aurora Pujol;Hans R. Waterham;Björn M. Van Geel

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Hyperintense globus pallidus on T1‐weighted MRI in cirrhotic patients is associated with severity of liver failure

    A. Pujol;J. Pujol;F. Graus;A. Rimola

  • Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle

    Eija Pirinen;Eija Pirinen;Eija Pirinen;Carles Cantó;Young Suk Jo;Laia Morato

  • Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

    Aurora Pujol;Colette Hindelang;Noëlle Callizot;Udo Bartsch

  • Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.

    Stéphane Fourcade;Jone López-Erauskin;Jorge Galino;Carine Duval

  • Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

    Aurora Pujol;Isidre Ferrer;Carme Camps;Elisabeth Metzger

  • The Evolutionary Origin of Peroxisomes: An ER-Peroxisome Connection

    Agatha Schlüter;Stéphane Fourcade;Raymond Ripp;Jean Louis Mandel

  • Predictive factors of the long term outcome in gastro-oesophageal reflux disease: six year follow up of 107 patients.

    E Kuster;E Ros;V Toledo-Pimentel;A Pujol

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity

    Cliona Stack;Shari Jainuddin;Ceyhan Elipenahli;Meri Gerges

  • General Aspects and Neuropathology of X‐Linked Adrenoleukodystrophy

    Isidro Ferrer;Patrick Aubourg;Aurora Pujol

  • Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis

    Inderjit Singh;Aurora Pujol

  • Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy

    Jone López-Erauskin;Stéphane Fourcade;Jorge Galino;Montserrat Ruiz

  • Amyloid generation and dysfunctional immunoproteasome activation with disease progression in animal model of familial Alzheimer's disease.

    Ester Aso;Selene Lomoio;Selene Lomoio;Irene López-González;Laura Joda

Frequent Co-Authors

Manuel Portero-Otin
Manuel Portero-Otin University of Lleida
Reinald Pamplona
Reinald Pamplona University of Lleida
Laurent Abel
Laurent Abel Université Paris Cité
Elena Galea
Elena Galea Autonomous University of Barcelona
Isidro Ferrer
Isidro Ferrer University of Barcelona
Patrick Aubourg
Patrick Aubourg University of Paris-Saclay
Jean-Laurent Casanova
Jean-Laurent Casanova The University of Texas Southwestern Medical Center
Jean-Louis Mandel
Jean-Louis Mandel Institute of Genetics and Molecular and Cellular Biology
Ronald J.A. Wanders
Ronald J.A. Wanders University of Amsterdam
M. Flint Beal
M. Flint Beal Cornell University

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