Abstract
Lissencephaly 1 (LIS1) was the first gene implicated in the pathogenesis of type-1 lissencephaly. More than a decade of research by multiple laboratories has revealed that LIS1 is a key node protein, which participates in several pathways, including association with the molecular motor cytoplasmic dynein, the reelin signaling pathway, and the platelet-activating factor pathway. Mutations in LIS1-interacting proteins, either in human, or in mouse models has suggested that LIS1 might play a role in the pathogenesis of numerous diseases such as male sterility, schizophrenia, neuronal degeneration, and viral infections.
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Reiner, O., Sapoznik, S. & Sapir, T. Lissencephaly 1 linking to multiple diseases. Neuromol Med 8, 547–565 (2006). https://doi.org/10.1385/NMM:8:4:547
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DOI: https://doi.org/10.1385/NMM:8:4:547