title: Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more.
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.
authors.affiliation: Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel. orly.reiner@weizmann.ac.il
authors.forename: Orly
authors.initials: O
authors.lastname: Reiner
authors.forename: Sivan
authors.initials: S
authors.lastname: Sapoznik
authors.forename: Tamar
authors.initials: T
authors.lastname: Sapir
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D020805:Central Nervous System Viral Diseases / Q000235:genetics / Q000378:metabolism; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000378:metabolism; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism; D008297:Male; D051379:Mice; D008869:Microtubule-Associated Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism; D011485:Protein Binding; D000091042:Reelin Protein; D012559:Schizophrenia / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D008869:Microtubule-Associated Proteins; D000091042:Reelin Protein; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human; C513190:Pafah1b1 protein, mouse; C000717127:RELN protein, human; C000717128:Reln protein, mouse