Dexamethasone Partially Rescues Ataxia Telangiectasia-mutated (ATM) Deficiency in Ataxia Telangiectasia by Promoting a Shortened Protein Variant Retaining Kinase Activity

Ataxia telangiectasia (AT) is a rare genetic disease, still incurable, resulting from biallelic mutations in the ataxia telangiectasia-mutated (ATM) gene. Recently, short term treatment with glucocorticoid analogues improved neurological symptoms characteristic of this syndrome. Nevertheless, the mo...

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Bibliographische Detailangaben
Hauptverfasser: Menotta, Michele, Biagiotti, Sara, Bianchi, Marzia, Chessa, Luciana, Magnani, Mauro
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2012
Schlagworte:
Cell Biology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510833/
https://ncbi.nlm.nih.gov/pubmed/23055520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.344473
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