Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Y1229H
Back to variants list

L1CAM

NM_001278116.2:p.Y1229H

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1

The L1 cell adhesion molecule constrains dendritic spine density in pyramidal neurons of the mouse cerebral cortex.

Murphy KE et al.

Frontiers in Neuroanatomy, 2023

Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A.

Creighton BA et al.

Elife, 2021

Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules.

Chen K et al.

The Journal of Cell Biology, 2020

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.

Yang R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.

Patzke C et al.

The Journal of Experimental Medicine, 2016

Ankyrin-B regulates Cav2.1 and Cav2.2 channel expression and targeting.

Kline CF et al.

The Journal of Biological Chemistry, 2014

Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.

Nakamura Y et al.

The Journal of Comparative Neurology, 2010

L1 interaction with ankyrin regulates mediolateral topography in the retinocollicular projection.

Buhusi M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin.

Bennett V et al.

Trends in Molecular Medicine, 2008

Cellular signalling mechanisms of neural cell adhesion molecules.

Panicker AK et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2003

The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins.

Thelen K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002

Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.

Needham LK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Weller S et al.

Human Mutation, 2001

Neural cell recognition molecule L1: relating biological complexity to human disease mutations.

Kenwrick S et al.

Human Molecular Genetics, 2000

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

De Angelis E et al.

The Embo Journal, 1999

Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons.

Scotland P et al.

The Journal of Cell Biology, 1998

Structural requirements for association of neurofascin with ankyrin.

Zhang X et al.

The Journal of Biological Chemistry, 1998

Genotype-phenotype correlation in L1 associated diseases.

Fransen E et al.

Journal of Medical Genetics, 1998

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Fransen E et al.

Human Molecular Genetics, 1997

Physiological roles of axonal ankyrins in survival of premyelinated axons and localization of voltage-gated sodium channels.

Bennett V et al.

Journal of Neurocytology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."