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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Eric N. Anderson, Michael T. Zimmermann, Nikita R. Dsouza, 2020, Acta Neuropathologica.

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy

A. Pastor, R. de la Torre, M. Portero-Otín, 2022, Acta Neuropathologica.

Role of Oxidative Stress in Liver Disorders

J. Fernandez-Checa, C. Garcia-Ruiz, S. Torres, 2022, Livers.

High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy

M. Beal, B. Colsch, F. Sedel, 2020, Brain pathology.

Mitochondrial cholesterol: Metabolism and impact on redox biology and disease

J. Fernandez-Checa, C. Garcia-Ruiz, S. Torres, 2023, Redox biology.

GST-Perfringolysin O production for the localization and quantification of membrane cholesterol in human and mouse brain and liver

J. Fernandez-Checa, F. Arenas, C. Garcia-Ruiz, 2021, STAR Protocols.

Integrative Multi-omics Analysis to Characterize Human Brain Ischemia

Ferran Briansó, J. Montaner, Jean-Charles Sanchez, 2021, Molecular Neurobiology.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

A. Fatemi, M. Portero-Otín, I. Ferrer, 2023, The Journal of clinical investigation.

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

J. Casanova, F. Campelo, O. Boespflug-Tanguy, 2023, The Journal of clinical investigation.

S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease

C. Garcia-Ruiz, S. Torres, S. Núñez, 2024, Redox biology.