Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
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DOI: 10.1038/s41398-020-01158-w
Abstract: 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… read more here.
Keywords: intellectual disability; death domain; pidd1; caspase ... See more keywords