Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with...
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
About this item
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Author / Creator
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 and Vincent, John B.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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-i...
Alternative Titles
Full title
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_59946732b5df4eecace75327ea1e1e2b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_59946732b5df4eecace75327ea1e1e2b
Other Identifiers
ISSN
2158-3188
E-ISSN
2158-3188
DOI
10.1038/s41398-020-01158-w
