Pujol, Aurora

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

Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Acevedo Arozena, A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., et al. (2016) · Autophagy

Autophagy in Disease and TherapyCalcium signaling and nucleotide metabolism

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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

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Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle

Pirinen, E., Cantó, C., Jo, Y. S., Morato, L., Zhang, H., Menzies, K. J., Williams, E. G., Mouchiroud, L., Moullan, N., Hagberg, C., et al. (2014) · Cell Metabolism

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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Pairo-Castineira, E., Rawlik, K., Bretherick, A. D., Qi, T., Wu, Y., Nassiri, I., McConkey, G. A., Zechner, M., Klaric, L., Griffiths, F., et al. (2023) · Nature

Genetic Associations and EpidemiologyCOVID-19 Clinical Research Studies

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Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., et al. (2008) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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

Pujol, A. (2002) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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

Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., & Mandel, J. L. (2004) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Pathomechanisms underlying X-adrenoleukodystrophy: A three-hit hypothesis

Singh, I., & Pujol, A. (2010) · Brain Pathology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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General aspects and neuropathology of X-linked adrenoleukodystrophy

Ferrer, I., Aubourg, P., & Pujol, A. (2010) · Brain Pathology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

López-Erauskin, J., Galino, J., Ruiz, M., Cuezva, J. M., Fabregat, I., Cacabelos, D., Boada, J., Martínez, J., Ferrer, I., Pamplona, R., et al. (2013) · Human Molecular Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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

Aso, E., Lomoio, S., López‐González, I., Joda, L., Carmona, M., Fernández‐Yagüe, N., Moreno, J., Juvés, S., Pujol, A., Pamplona, R., et al. (2012) · Brain Pathology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?

Galea, E., Launay, N., Portero-Otin, M., Ruiz, M., Pamplona, R., Aubourg, P., Ferrer, I., & Pujol, A. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersNeurological diseases and metabolism

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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

Fourcade, S., Ruiz, M., Camps, C., Schlüter, A., Houten, S. M., Mooyer, P. A. W., Pàmpols, T., Dacremont, G., Wanders, R. J. A., Giròs, M., et al. (2009) · American Journal of Physiology-Endocrinology and Metabolism

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

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Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

Schlüter, A., Espinosa, L., Fourcade, S., Galino, J., López, E., Ilieva, E., Morató, L., Asheuer, M., Cook, T., McLaren, A., et al. (2012) · Human Molecular Genetics

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Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

Kruska, N., Schönfeld, P., Pujol, A., & Reiser, G. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

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Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy

Fourcade, S., López-Erauskin, J., Ruiz, M., Ferrer, I., & Pujol, A. (2014) · Biochimie

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy

Coppa, A., Guha, S., Fourcade, S., Parameswaran, J., Ruiz, M., Moser, A. B., Schlüter, A., Murphy, M. P., Lizcano, J. M., Miranda-Vizuete, A., et al. (2020) · Free Radical Biology and Medicine

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Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schlüter, A., Fourcade, S., Paredes-Fuentes, A. J., et al. (2024) · Brain

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An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs

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