Ontology highlight
ABSTRACT:
SUBMITTER: Ha HJ
PROVIDER: S-EPMC6169973 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
PloS one 20181003 10
Abnormal regulation of caspase-2-mediated neuronal cell death causes neurodegenerative diseases and defective brain development. PIDDosome is caspase-2 activating complex composed of PIDD, RAIDD, and caspase-2. Recent whole-exome sequencing study showed that the RAIDD mutations in the death domain (DD), including G128R, F164C, R170C, and R170H mutations, cause thin lissencephaly (TLIS) by reducing caspase-2-mediated neuronal apoptosis. Given that the molecular structure of the RAIDD DD:PIDD DD c ...[more]