ArticleThe EMBO journal1996
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
Article in The EMBO journal, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 127 citations in OpenAlex.
- E-selectin affinity glycoproteomics reveals neuroendocrine proteins and the secretin receptor as a poor-prognosis signature in colorectal cancer.Molecular oncology · 2025Article
- Functional Diversity of Neuronal Cell Adhesion and Recognition Molecule L1CAM through Proteolytic Cleavage.Cells · 2022Review
- L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Neurogenetics · 2021Article
- L1CAM as an E-selectin Ligand in Colon Cancer.International journal of molecular sciences · 2020Article
- The Amyloid as a Ribbon-Like Micelle in Contrast to Spherical Micelles Represented by Globular Proteins.Molecules (Basel, Switzerland) · 2019Review
- Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.The Journal of clinical endocrinology and metabolism · 2019Article
- Structural and Evolutionary Insights within the Polysaccharide Deacetylase Gene Family ofGenes · 2018Article
- A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.Clinical case reports · 2017Article
- A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Journal of molecular neuroscience : MN · 2016Article
- Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.The Journal of experimental medicine · 2016Article
- Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.Neurology. Genetics · 2015Article
- Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.Neurologia medico-chirurgica · 2015Review
- Neural cell adhesion molecule NrCAM regulates Semaphorin 3F-induced dendritic spine remodeling.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Intercellular protein-protein interactions at synapses.Protein & cell · 2014Review
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.Neurogenetics · 2012Article
- Two alcohol binding residues interact across a domain interface of the L1 neural cell adhesion molecule and regulate cell adhesion.The Journal of biological chemistry · 2011Article
- A novel L1CAM mutation in a fetus detected by prenatal diagnosis.European journal of pediatrics · 2010Article
- Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.The Journal of biological chemistry · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The L1 cell adhesion molecule has six domains homologous to members of the immunoglobulin superfamily and five homologous to fibronectin type III domains. We determined the outline structure of the L1 domains by showing that they have, at the key sites that determine conformation, residues similar to those in proteins of known structure. The outline structure describes the relative positions of residues, the major secondary structures and residue solvent accessibility. We use the outline structure to investigate the likely effects of 22 mutations that cause neurological diseases. The mutations are not randomly distributed but cluster in a few regions of the structure. They can be divided into those that act mainly by changing conformation or denaturing their domain and those that alter its surface properties.
Indexed as
Identifiers
8947027PMC452426W81558796What 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.