Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Sign Up to like & getrecommendations! Published in 2021 at "Translational Psychiatry"
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
A comprehensive interaction study provides a potential domain interaction network of human death domain superfamily proteins.
Sign Up to like & getrecommendations! Published in 2021 at "Cell death and differentiation"
DOI: 10.1038/s41418-021-00796-x
Abstract: Human death domain superfamily proteins (DDSPs) play important roles in many signaling pathways involved in cell death and inflammation. Disruption or constitutive activation of these DDSP interactions due to inherited gene mutations is closely related… read more here.
Keywords: network; death domain; interaction; human death ... See more keywords
Cancer and the death domain
Sign Up to like & getrecommendations! Published in 2019 at "Science Signaling"
DOI: 10.1126/scisignal.aay2357
Abstract: Inclusion of a death domain in an alternatively spliced isoform of the kinase IRAK4 increases leukemic burden. Inclusion of a death domain in an alternatively spliced isoform of the kinase IRAK4 increases leukemic burden. read more here.
Keywords: death domain; death; cancer death;
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022008195
Abstract: Key Points • MADD-deficient cytotoxic cells display defect of degranulation, most likely due to impaired activation of RAB27A.• Patients with MADD deficiency may have a predisposition to develop HLH. read more here.
Keywords: kinase activating; death domain; activating death; domain deficiency ... See more keywords