Author

Laure Caccavelli

Hôpital Necker-Enfants MaladesORCID 0000-0001-6324-2304Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Assay:proteomics· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Marine MadrangeiD· 2 shared Pascale de LonlayiD· 2 shared A. Madelaine· 1 shared Aasta Kelly· 1 shared Aleksandra Nadaj‐PaklezaiD· 1 shared Alistair R. R. ForrestiD· 1 shared Anaïs Chanut· 1 shared Anna ViholaiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marine MadrangeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 3, 2026

Novel variants in ryanodine receptor type 3 predispose to acute rhabdomyolysis due to impaired autophagy

Hortense de Calbiac, Laure Caccavelli, Solène Renault…·Pascale de Lonlay

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

DOI 10.64898/2026.02.27.26345848

humanzebrafish

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GeneticsBrainPeer-reviewedDec 23, 2021

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese…·Gianina Ravenscroft

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

31 citations

human

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