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

doi:10.1038/s41398-020-01158-w

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Article

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

Translational psychiatry - 5 Jan 2021

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

Abstract excerpt

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-κB signaling for survival, or as an apoptosis-inducing protein by activating caspase-2. Biallelic truncating...

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PMID: 33414379
DOI: 10.1038/s41398-020-01158-w
PMCID: PMC7791037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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