TANGO2 binds crystallin alpha B and its loss causes desminopathy

TANGO2 binds crystallin alpha B and its loss causes desminopathy

Abstract Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the functi...

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Main Authors: Maike Stentenbach, Laetitia A. Hughes, Samuel V. Fagan, Blake Payne, Danielle L. Rudler, Stefan J. Siira, Tim McCubbin, Anaëlle Chopin, Kara L. Perks, Judith A. Ermer, James Hendry, Teagan S. Er, Shanti Balasubramaniam, Joel A. Eliades, Livia C. Hool, Nicolle H. Packer, Edward S. X. Moh, Benjamin S. Padman, Oliver Rackham, Aleksandra Filipovska
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-60563-1
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https://doi.org/10.1038/s41467-025-60563-1

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