| Title: |
RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS). |
| Authors: |
Ha, Hyun Ji1, Park, Hyun Ho1 |
| Source: |
PLoS ONE. 10/3/2018, Vol. 13 Issue 10, p1-13. 13p. |
| Subject Terms: |
*LISSENCEPHALY, *BRAIN abnormalities, *INTELLECTUAL disabilities, *CARCINOGENESIS, *NEURAL development, *MOLECULAR structure, *CELL death |
| Abstract: |
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 complex is available, in this study, we analyzed the molecular mechanisms underlying TLIS caused by the RAIDD TLIS variants by performing mutagenesis and biochemical assays. [ABSTRACT FROM AUTHOR] |
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