TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning-Reference-Cited by-同舟云学术

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

Published:2024-02 Issue:1 Volume:3 Page:
ISSN:2769-4127
Container-title:Autophagy Reports
language:en
Short-container-title:Autophagy Reports

Author:

de Calbiac Hortense¹²,Montealegre Sebastian¹,Straube Marjolène¹²,Renault Solène¹²,Debruge Hugo¹²,Chentout Loïc¹²,Ciura Sorana³,Imbard Apolline⁴,Le Guillou Edouard⁴,Marian Anca³,Goudin Nicolas⁵,Caccavelli Laure¹²,Fabrega Sylvie⁶,Hubas Arnaud⁷,van Endert Peter¹⁸,Dupont Nicolas¹,Diana Julien¹,Kabashi Edor³,de Lonlay Pascale¹²

Affiliation:

1. Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015 Paris, France

2. Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, F-75015, Paris, France

3. Translational Research for Neurological Diseases, Institut Imagine, INSERM UMR 1163, Université Paris Cité, F-75015, Paris, France

4. Metabolic biochemistry, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Filière G2M, MetabERN, Université Paris Cité, F-75015, Paris, France

5. Cell Imaging & Flow Cytometry Core Facilities, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, F-75015, France

6. Platform, Structure Fédérative de Recherche Necker, F-75015, Paris, France

7. Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Universitaire Cochin, AP-HP, F-75014, Paris, France

8. Service Immunologie Biologique, AP-HP, Hôpital Universitaire Necker-Enfants Malades, F-75015, Paris, France

Funder

Agence Nationale de la Recherche

Tango2 Foundation

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/27694127.2024.2306766

Reference65 articles.

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2. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy;Kremer LS;Am J Hum Genet,2016

3. Rhabdomyolysis: historical background, clinical, diagnostic and therapeutic features

4. Rhabdomyolysis: pathogenesis, diagnosis, and treatment;Torres PA;Ochsner J,2015

5. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect;Berat CM;J Inherit Metab