Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.
Horiuchi R et al.
Clinical Case Reports, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.
Tüysüz B et al.
Turkish Archives of Pediatrics, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations.
Brümmendorf T et al.
Current Opinion in Neurobiology, 1998
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
MacFarlane JR et al.
Human Mutation, 1997
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997