Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A point mutation in the extracellular domain of L1 blocks its capacity to confer metastasis in colon cancer cells via CD10.
Haase G et al.
Oncogene, 2017
The role of L1cam in murine corticogenesis, and the pathogenesis of hydrocephalus.
Itoh K et al.
Pathology International, 2015
The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
Hortsch M et al.
Advances in Neurobiology, 2014
L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.
Tagliavacca L et al.
Journal of Neurochemistry, 2013
Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.
Kudumala S et al.
Plos One, 2013
Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation.
Itoh K et al.
Journal of Neuroscience Research, 2011
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.
Schäfer MK et al.
Neurobiology of Disease, 2010
L1CAM malfunction in the nervous system and human carcinomas.
Schäfer MK et al.
Cellular and Molecular Life Sciences : Cmls, 2010
A conserved role for Drosophila Neuroglian and human L1-CAM in central-synapse formation.
Godenschwege TA et al.
Current Biology : Cb, 2006
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
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis E et al.
Human Molecular Genetics, 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
Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E et al.
The Embo Journal, 1999
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
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
Bateman A et al.
The Embo Journal, 1996
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.
Zhao X et al.
The Journal of Biological Chemistry, 1996
X linked hydrocephalus and MASA syndrome.
Kenwrick S et al.
Journal of Medical Genetics, 1996
Cell-adhesion proteins of the immunoglobulin superfamily in the nervous system.
Uyemura K et al.
Essays in Biochemistry, 1996
Neural cell adhesion proteins and neurological diseases.
Uyemura K et al.
Journal of Biochemistry, 1994
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M et al.
Nature Genetics, 1994
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Vits L et al.
Nature Genetics, 1994