TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed in vitro, in primary skeletal myoblasts from TANGO2 patients, in basal and fasting conditions, and TANGO2 mutations were associate...

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Main Authors: Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Autophagy Reports
Subjects:
Autophagy
calpeptin
myoblasts
rhabdomyolysis
TANGO2
zebrafish
Online Access:https://www.tandfonline.com/doi/10.1080/27694127.2024.2306766
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