SAMHD1‐deficient fibroblasts from Aicardi‐Goutières Syndrome patients can escape senescence and accumulate mutations

In mammalian cells, the catabolic activity of the dNTP triphosphohydrolase SAMHD1 sets the balance and concentration of the four dNTPs. Deficiency of SAMHD1 leads to unequally increased pools and marked dNTP imbalance. Imbalanced dNTP pools increase mutation frequency in cancer cells, but it is not...

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Veröffentlicht in:	The FASEB journal 2020-01, Vol.34 (1), p.631-647
Hauptverfasser:	Franzolin, Elisa, Coletta, Sara, Ferraro, Paola, Pontarin, Giovanna, D'Aronco, Giulia, Stevanoni, Martina, Palumbo, Elisa, Cagnin, Stefano, Bertoldi, Loris, Feltrin, Erika, Valle, Giorgio, Russo, Antonella, Bianchi, Vera, Rampazzo, Chiara
Format:	Artikel
Sprache:	eng
Schlagworte:	deoxynucleotide catabolism deoxynucleotide pool imbalance sterile alpha motif and HD domain containing protein 1 (SAMHD1) UV‐induced DNA repair
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