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Autophagy Reports Volume 3, 2024 - Issue 1
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TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

Hortense de Calbiaca Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceCorrespondence[email protected]
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Sebastian Montealegrea Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, FranceView further author information
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Marjolène Straubea Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Solène Renaulta Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Hugo Debrugea Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Loïc Chentouta Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Sorana Ciurac Translational Research for Neurological Diseases, Institut Imagine, INSERM UMR 1163, Université Paris Cité, F-75015, Paris, FranceView further author information
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Apolline Imbardd Metabolic biochemistry, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, Université Paris Cité, F-75015, Paris, FranceView further author information
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Edouard Le Guilloud Metabolic biochemistry, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, Université Paris Cité, F-75015, Paris, FranceView further author information
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Anca Marianc Translational Research for Neurological Diseases, Institut Imagine, INSERM UMR 1163, Université Paris Cité, F-75015, Paris, FranceView further author information
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Nicolas Goudine Cell Imaging & Flow Cytometry Core Facilities, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, F-75015, FranceView further author information
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Laure Caccavellia Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Sylvie Fabregaf Platform, Structure Fédérative de Recherche Necker, F-75015, Paris, FranceView further author information
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Arnaud Hubasg Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Universitaire Cochin, AP-HP, F-75014, Paris, FranceView further author information
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Peter van Enderta Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;h Service Immunologie Biologique, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, FranceView further author information
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Nicolas Duponta Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, FranceView further author information
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Julien Dianaa Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, FranceView further author information
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Edor Kabashic Translational Research for Neurological Diseases, Institut Imagine, INSERM UMR 1163, Université Paris Cité, F-75015, Paris, FranceView further author information
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Pascale de Lonlaya Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015Paris, France;b Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, FranceView further author information
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Article: 2306766 | Received 31 Mar 2023, Accepted 12 Jan 2024, Published online: 01 Feb 2024

Figures & data

Figure 1. Autophagy is defective in TANGO2 patients’ primary myoblasts.

Figure 1. Autophagy is defective in TANGO2 patients’ primary myoblasts.

Figure 2. tango2 knockdown induces a RM-like phenotype in zebrafish due to autophagy defects.

Figure 2. tango2 knockdown induces a RM-like phenotype in zebrafish due to autophagy defects.

Figure 3. Calpeptin ameliorates TANGO2 disease features in zebrafish and in primary myoblasts.

Figure 3. Calpeptin ameliorates TANGO2 disease features in zebrafish and in primary myoblasts.
Supplemental material

Supplemental Figures_rev.pdf

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