Abstract
LIS1 is one of the genes that has a principle role in brain development since hemizygote mutations in LIS1 result in a severe brain malformation known as lissencephaly ('smooth brain'). LIS1 is a WD repeat protein and is known to be involved in several protein complexes that are likely to play a functional role in brain development. We discuss here the brain developmental phenotype observed in mice heterozygote for an N-terminal truncated LIS1 protein in view of known LIS1 protein interactions.
Publication types
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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
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Alleles
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Animals
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Brain / abnormalities*
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Brain / embryology
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Conserved Sequence
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Doublecortin Domain Proteins
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Drosophila Proteins / metabolism
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Drosophila melanogaster / embryology
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Drosophila melanogaster / genetics
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Dyneins / metabolism
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Fungal Proteins / metabolism
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Gene Dosage
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Genes, Lethal
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Heterozygote
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Humans
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Infant, Newborn
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Macromolecular Substances
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Mice
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Microtubule-Associated Proteins / deficiency
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Microtubule-Associated Proteins / genetics
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Microtubule-Associated Proteins / physiology*
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Microtubules / metabolism
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Microtubules / ultrastructure
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Morphogenesis / genetics
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Nerve Tissue Proteins / deficiency
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / physiology*
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Neuropeptides / deficiency
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Neuropeptides / genetics
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Neuropeptides / physiology
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Oocytes / metabolism
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Phenotype
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Phospholipases A / chemistry
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Phospholipases A / metabolism
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Sequence Deletion
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Serine Endopeptidases / metabolism
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Xenopus laevis / embryology
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Xenopus laevis / genetics
Substances
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Doublecortin Domain Proteins
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Drosophila Proteins
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Fungal Proteins
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Lis-1 protein, Drosophila
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Macromolecular Substances
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Microtubule-Associated Proteins
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Nerve Tissue Proteins
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Neuropeptides
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RO-11 protein, Neurospora crassa
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Phospholipases A
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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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Serine Endopeptidases
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Dyneins