title: LIS1-no more no less.
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.
authors.affiliation: Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Reiner
authors.forename: A
authors.initials: A
authors.lastname: Cahana
authors.forename: T
authors.initials: T
authors.lastname: Escamez
authors.forename: S
authors.initials: S
authors.lastname: Martinez
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000483:Alleles; D000818:Animals; D001921:Brain / Q000002:abnormalities* / Q000196:embryology; D017124:Conserved Sequence; D000089622:Doublecortin Domain Proteins; D029721:Drosophila Proteins / Q000378:metabolism; D004331:Drosophila melanogaster / Q000196:embryology / Q000235:genetics; D004398:Dyneins / Q000378:metabolism; D005656:Fungal Proteins / Q000378:metabolism; D018628:Gene Dosage; D005804:Genes, Lethal; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D046911:Macromolecular Substances; D051379:Mice; D008869:Microtubule-Associated Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D008870:Microtubules / Q000378:metabolism / Q000648:ultrastructure; D009024:Morphogenesis / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D009479:Neuropeptides / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D009865:Oocytes / Q000378:metabolism; D010641:Phenotype; D010741:Phospholipases A / Q000737:chemistry / Q000378:metabolism; D017384:Sequence Deletion; D012697:Serine Endopeptidases / Q000378:metabolism; D014982:Xenopus laevis / Q000196:embryology / Q000235:genetics
chemical_list: D000089622:Doublecortin Domain Proteins; D029721:Drosophila Proteins; D005656:Fungal Proteins; C513192:Lis-1 protein, Drosophila; D046911:Macromolecular Substances; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C121041:RO-11 protein, Neurospora crassa; D010741:Phospholipases A; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human; C513190:Pafah1b1 protein, mouse; D012697:Serine Endopeptidases; D004398:Dyneins