Publications by authors named "Stephane Fourcade"

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Stéphane Fourcade

Am J Hum Genet· November 2025

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Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.
Nathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, Gorka Fernández-Eulate, Jon Ondaro, Stephane Fourcade

Aging Cell· January 2025

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An and efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
Vidyullatha Vasireddy, Casey A Maguire, David W Anderson, Carrie Ng, Yi Gong, Stéphane Fourcade

Mol Ther Methods Clin Dev· December 2024

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Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Nathalie Launay, Jone Lopez-Erauskin, Patrizia Bianchi, Sanjib Guha, Janani Parameswaran, Stéphane Fourcade

Brain· June 2024

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Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Stéphane Fourcade

EBioMedicine· October 2023

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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade

Genome Med· September 2023

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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Stéphane Fourcade

J Clin Invest· May 2023

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Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.
Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra, Antoni Pastor, Montserrat Ruiz, Stéphane Fourcade

Acta Neuropathol· August 2022

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, Valentina Vélez-Santamaría, Montserrat Ruiz, Stéphane Fourcade

Neurology· March 2022

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Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.
Pablo Ranea-Robles, Jorge Galino, Lluís Espinosa, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade

Neuropathol Appl Neurobiol· February 2022

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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Àngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, Eric N Anderson, Leire Goicoechea, Stéphane Fourcade

Acta Neuropathol· December 2020

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The Value of Mouse Models of Rare Diseases: A Spanish Experience.
Silvia Murillo-Cuesta, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Stéphane Fourcade

Front Genet· October 2020

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High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.
Stéphane Fourcade, Leire Goicoechea, Janani Parameswaran, Agatha Schlüter, Nathalie Launay

Brain Pathol· September 2020

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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Stéphane Fourcade

Ann Clin Transl Neurol· September 2020

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HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Sara C Reichert, Rachel Li, Scott A Turner, Richard H van Jaarsveld, Maarten P G Massink, Stéphane Fourcade

Clin Genet· July 2020

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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.
Andrea Coppa, Sanjib Guha, Stéphane Fourcade, Janani Parameswaran, Montserrat Ruiz

Free Radic Biol Med· May 2020

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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade

J Med Genet· February 2020

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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Edgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate, Raquel Ramos-Martín, Miren Zulaica, Stéphane Fourcade

Ann Clin Transl Neurol· January 2020

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A novel mutation in the gene expands the phenotype of Alexander disease.
Carlos Casasnovas, Edgard Verdura, Valentina Vélez, Agatha Schlüter, Albert Pons-Escoda, Stéphane Fourcade

J Med Genet· December 2019

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Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.
Carlos Casasnovas, Montserrat Ruiz, Agatha Schlüter, Alba Naudí, Stéphane Fourcade

Neurotherapeutics· October 2019

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Devesh C Pant, Imen Dorboz, Agatha Schluter, Stéphane Fourcade, Nathalie Launay

J Clin Invest· March 2019

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Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.
Agatha Schlüter, Juan Sandoval, Stéphane Fourcade, Angel Díaz-Lagares, Montserrat Ruiz

Brain Pathol· November 2018

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Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.
Pablo Ranea-Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Stéphane Fourcade

EMBO Mol Med· August 2018

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Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice.
Olga C Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Stephane Fourcade

Cell Rep· May 2018

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SIRT2 in age-related neurodegenerative disorders.
Stéphane Fourcade, Tiago F Outeiro, Aurora Pujol

Aging (Albany NY)· March 2018

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