Abstract
Lissencephaly, which means 'smooth cortex', is caused by defective neuronal migration during development of the cerebral cortex and has devastating clinical consequences. 'Classical' lissencephaly seems to reflect mutations in regulators of the microtubule cytoskeleton, whereas 'cobblestone' lissencephaly is caused by mutations in genes needed for the integrity of the basal lamina of the central nervous system. Reelin, which is mutated in a third type of lissencephaly, may represent a unifying link because it encodes an extracellular protein that regulates neuronal migration and may also regulate the microtubule cytoskeleton.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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1-Alkyl-2-acetylglycerophosphocholine Esterase
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Animals
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Basement Membrane / metabolism
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Cell Adhesion Molecules, Neuronal / genetics
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Cell Adhesion Molecules, Neuronal / metabolism
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Doublecortin Domain Proteins
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Extracellular Matrix / genetics
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Extracellular Matrix Proteins / genetics
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Extracellular Matrix Proteins / metabolism
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Humans
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Membrane Proteins
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Microtubule-Associated Proteins / genetics*
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Microtubules / genetics
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Microtubules / metabolism
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N-Acetylglucosaminyltransferases / genetics
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Neocortex / embryology*
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Nerve Tissue Proteins
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Neuropeptides / genetics*
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Proteins / genetics
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Receptors, Cytoadhesin / metabolism
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Reelin Protein
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Serine Endopeptidases
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Signal Transduction
Substances
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Cell Adhesion Molecules, Neuronal
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Doublecortin Domain Proteins
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Extracellular Matrix Proteins
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FKTN protein, human
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Membrane Proteins
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Microtubule-Associated Proteins
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Nerve Tissue Proteins
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Neuropeptides
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Proteins
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Receptors, Cytoadhesin
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Reelin Protein
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N-Acetylglucosaminyltransferases
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protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
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1-Alkyl-2-acetylglycerophosphocholine Esterase
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PAFAH1B1 protein, human
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RELN protein, human
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Serine Endopeptidases