Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia

Abstract Ataxia-telangiectasia is a rare genetic disorder characterized by neurological defects, immunodeficiency, cancer predisposition, radiosensitivity, decreased blood vessel integrity, and diabetes. ATM, the protein mutated in Ataxia-telangiectasia, responds to DNA damage and oxidative stress,...

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Main Authors: July Carolina Romero, Sonal S. Tonapi, Manish Parihar, Eva Loranc, Henry E. Miller, Liesl A. Lawrence, Nicklas Bassani, Daniel G. Robledo, Lin Cao, Jia Nie, Kairi Kanda, Aiola Stoja, Natalia Garcia, Aparna Gorthi, Brian J. Stoveken, Teresa W-M Fan, Teresa A. Cassel, Shan Zha, James D. Lechleiter, Nicolas Musi, Lily Q. Dong, Andrew N. Lane, Alexander J. R. Bishop
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-60304-4
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