Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

PIDD1 encodes p53-Induced Death Domain protein 1, which acts as a sensor surveilling centrosome numbers and p53 activity in mammalian cells. Early results also suggest a role in DNA damage response where PIDD1 may act as a cell-fate switch, through interaction with RIP1 and NEMO/IKKg, activating NF-...

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Detalles Bibliográficos
Autores principales: Sheikh, Taimoor I., Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C., Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, Vincent, John B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791037/
https://www.ncbi.nlm.nih.gov/pubmed/33414379
http://dx.doi.org/10.1038/s41398-020-01158-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791037/
https://www.ncbi.nlm.nih.gov/pubmed/33414379
http://dx.doi.org/10.1038/s41398-020-01158-w

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