Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygy...
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
About this item
Full title
Author / Creator
Zaki, Maha S , Accogli, Andrea , Mirzaa, Ghayda , Rahman, Fatima , Mohammed, Hiba , Porras-Hurtado, Gloria Liliana , Efthymiou, Stephanie , Maqbool, Shazia , Shukla, Anju , Vincent, John B , Hussain, Abrar , Mir, Asif , Beetz, Christian , Leubauer, Anika , Houlden, Henry , Gleeson, Joseph G and Maroofian, Reza
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the recent years, biallelic pathogenic variants in CRADD have been associated with a neurodevelopmental disord...
Alternative Titles
Full title
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8385073
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8385073
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00910-0
