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RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS)
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 (...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169973/ https://www.ncbi.nlm.nih.gov/pubmed/30281648 http://dx.doi.org/10.1371/journal.pone.0205042 |