ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2001
Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 74 citations in OpenAlex.
- The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability.Cells · 2026Review
- X-Linked Hydrocephalus with NewMolecular syndromology · 2023Article
- The L1 cell adhesion molecule constrains dendritic spine density in pyramidal neurons of the mouse cerebral cortex.Frontiers in neuroanatomy · 2023Article
- Molecular Mechanisms of L1 and NCAM Adhesion Molecules in Synaptic Pruning, Plasticity, and Stabilization.Frontiers in cell and developmental biology · 2021Review
- Shedding Light on Chandelier Cell Development, Connectivity, and Contribution to Neural Disorders.Trends in neurosciences · 2020Review
- Neuroprotective Peptide NAPVSIPQ Antagonizes Ethanol Inhibition of L1 Adhesion by Promoting the Dissociation of L1 and Ankyrin-G.Biological psychiatry · 2020Article
- Article
- L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.The Journal of experimental medicine · 2016Article
- Reciprocal Interactions between Cell Adhesion Molecules of the Immunoglobulin Superfamily and the Cytoskeleton in Neurons.Frontiers in cell and developmental biology · 2016Review
- Ankyrin-B regulates Cav2.1 and Cav2.2 channel expression and targeting.The Journal of biological chemistry · 2014Article
- L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.Journal of neurochemistry · 2013Article
- Article
- Neuron glia-related cell adhesion molecule (NrCAM) promotes topographic retinocollicular mapping.PloS one · 2013Article
- Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.PloS one · 2013Article
- EphB regulates L1 phosphorylation during retinocollicular mapping.Molecular and cellular neurosciences · 2012Article
- Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.Neurogenetics · 2012Article
- L1 and CHL1 Cooperate in Thalamocortical Axon Targeting.Cerebral cortex (New York, N.Y. : 1991) · 2011Article
- Neural integrity is maintained by dystrophin in C. elegans.The Journal of cell biology · 2011Article
- Perisomatic GABAergic innervation in prefrontal cortex is regulated by ankyrin interaction with the L1 cell adhesion molecule.Cerebral cortex (New York, N.Y. : 1991) · 2010Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The neural adhesion molecule L1 mediates the axon outgrowth, adhesion, and fasciculation that are necessary for proper development of synaptic connections. L1 gene mutations are present in humans with the X-linked mental retardation syndrome CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, hydrocephalus). Three missense mutations associated with CRASH syndrome reside in the cytoplasmic domain of L1, which contains a highly conserved binding region for the cytoskeletal protein ankyrin. In a cellular ankyrin recruitment assay that uses transfected human embryonic kidney (HEK) 293 cells, two of the pathologic mutations located within the conserved SFIGQY sequence (S1224L and Y1229H) strikingly reduced the ability of L1 to recruit 270 kDa ankyrinG protein that was tagged with green fluorescent protein (ankyrin-GFP) to the plasma membrane. In contrast, the L1 missense mutation S1194L and an L1 isoform lacking the neuron-specific sequence RSLE in the cytoplasmic domain were as effective as RSLE-containing neuronal L1 in the recruitment of ankyrin-GFP. Ankyrin binding by L1 was independent of cell-cell interactions. Receptor-mediated endocytosis of L1 regulates intracellular signal transduction, which is necessary for neurite outgrowth. In rat B35 neuroblastoma cell lines stably expressing L1 missense mutants, antibody-induced endocytosis was unaffected by S1224L or S1194L mutations but appeared to be enhanced by the Y1229H mutation. These results suggested a critical role for tyrosine residue 1229 in the regulation of L1 endocytosis. In conclusion, specific mutations within key residues of the cytoplasmic domain of L1 (Ser(1224), Tyr(1229)) destabilize normal L1-ankyrin interactions and may influence L1 endocytosis to contribute to the mechanism of neuronal dysfunction in human X-linked mental retardation.
Indexed as
Identifiers
11222639PMC6762935W1779398112What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.