GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:14578885
Citation |
Assadi, AH, Zhang, G, Beffert, U, McNeil, RS, Renfro, AL, Niu, S, Quattrocchi, CC, Antalffy, BA, Sheldon, M, Armstrong, DD, Wynshaw-Boris, A, Herz, J, D'Arcangelo, G and Clark, GD (2003) Interaction of reelin signaling and Lis1 in brain development. Nat. Genet. 35:270-6 |
---|---|
Abstract |
Loss-of-function mutations in RELN (encoding reelin) or PAFAH1B1 (encoding LIS1) cause lissencephaly, a human neuronal migration disorder. In the mouse, homozygous mutations in Reln result in the reeler phenotype, characterized by ataxia and disrupted cortical layers. Pafah1b1(+/-) mice have hippocampal layering defects, whereas homozygous mutants are embryonic lethal. Reln encodes an extracellular protein that regulates layer formation by interacting with VLDLR and ApoER2 (Lrp8) receptors, thereby phosphorylating the Dab1 signaling molecule. Lis1 associates with microtubules and modulates neuronal migration. We investigated interactions between the reelin signaling pathway and Lis1 in brain development. Compound mutant mice with disruptions in the Reln pathway and heterozygous Pafah1b1 mutations had a higher incidence of hydrocephalus and enhanced cortical and hippocampal layering defects. Dab1 and Lis1 bound in a reelin-induced phosphorylation-dependent manner. These data indicate genetic and biochemical interaction between the reelin signaling pathway and Lis1. |
Links |
PubMed Online version:10.1038/ng1257 |
Keywords |
1-Alkyl-2-acetylglycerophosphocholine Esterase; Animals; Brain/embryology; Cell Adhesion Molecules, Neuronal/metabolism; Extracellular Matrix Proteins/metabolism; Humans; Mice; Mice, Neurologic Mutants; Microtubule-Associated Proteins/metabolism; Nerve Tissue Proteins; Serine Endopeptidases; Signal Transduction |
edit table |
Significance
Annotations
Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
---|---|---|---|---|---|---|---|---|
edit table |
See also
References
See Help:References for how to manage references in GONUTS.