Author

Julien Fauré

InsermORCID 0000-0002-3660-9809Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:human· 3 Research Focus:differential expression· 2 Organism:mouse· 2 Research Focus:cell type annotation· 1 Assay:CRISPR screen· 1 Research Focus:drug response / drug discovery· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Isabelle MartyiD· 3 shared John RenduiD· 3 shared Julie BrocardiD· 2 shared Mathilde BeaufilsiD· 2 shared Norma Beatriz RomeroiD· 2 shared Aïda B Fall· 1 shared Amy LeeiD· 1 shared Anju ShuklaiD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersNeuroscience

Isabelle MartyORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

CACNA2D4 variants are associated with exertional heat stroke susceptibility

Clara Charpentier, Aïda B Fall, Juan de la Rosa Vázquez, Jonathan Schreiber, J. Brocard, Patrick Méresse, Dorra Guergour, Caroline Benstaali, Caroline Bosson, Nathalie Roux-Buisson, Bruno Allard, Amy Lee, Isabelle Marty, Julien Fauré

The paper identifies CACNA2D4 variants associated with exertional heat stroke susceptibility and shows their impact on calcium signaling in skeletal muscle.

bioRxiv · Jun 22, 2026 · PreprintGenetics

Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation

Mathilde Beaufils, Margaux Melka, Julie Brocard, Clement Benoit, Nagi Debbah, Kamel Mamchaoui, Norma Beatriz Romero, Anne-Frédérique Dalmas, Susana Quijano-Roy, Julien Fauré, John Rendu, Isabelle Marty

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

Molecular Therapy — Nucleic Acids · Jun 17, 2024Peer-reviewedNeuroscience

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Laurent Pelletier, Anne Petiot, Julie Brocard, Benoı̂t Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel METZGER, Clara Franzini Armstrong, Norma Beatriz Romero, John Rendu, , Isabelle Marty

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.

Acta Neuropathologica Communications · Nov 11, 2020Peer-reviewedNeuroscience

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh‐Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben‐Omran, Fatima Almusafri, Mariam AlMulla, Kati J. Buckingham, , Michael J. Bamshad

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

The American Journal of Human Genetics · Jul 23, 2020Peer-reviewedGenetics