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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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1-Alkyl-2-acetylglycerophosphocholine Esterase / genetics*
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1-Alkyl-2-acetylglycerophosphocholine Esterase / metabolism
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Animals
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Central Nervous System Viral Diseases / genetics
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Central Nervous System Viral Diseases / metabolism
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Classical Lissencephalies and Subcortical Band Heterotopias / genetics*
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Classical Lissencephalies and Subcortical Band Heterotopias / metabolism
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Humans
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Infertility, Male / genetics
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Infertility, Male / metabolism
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Intellectual Disability / genetics
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Intellectual Disability / metabolism
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Male
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Mice
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Microtubule-Associated Proteins / genetics*
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Microtubule-Associated Proteins / metabolism
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Mutation
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Nerve Degeneration / genetics
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Nerve Degeneration / metabolism
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Protein Binding
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Reelin Protein
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Schizophrenia / genetics
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Schizophrenia / metabolism
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Signal Transduction
Substances
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Microtubule-Associated Proteins
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Reelin Protein
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1-Alkyl-2-acetylglycerophosphocholine Esterase
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PAFAH1B1 protein, human
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Pafah1b1 protein, mouse
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RELN protein, human
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Reln protein, mouse