(Q28506457)

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo (English)

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

Neural cell adhesion molecule L1

16 December 2019

main subject

1 reference

GOA release 2020-03-11

author

Klaus-Armin Nave

3

0 references

Melitta Schachner

4

object named as

Melitta Schachner

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

3

Klaus-Armin Nave

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Udo Bartsch

2

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Annette E Rünker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

language of work or name

English

0 references

publication date

1 January 2003

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

published in

Journal of Neuroscience

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

23

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

1

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

page(s)

277-286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

A binding site for homeodomain and Pax proteins is necessary for L1 cell adhesion molecule gene expression by Pax-6 and bone morphogenetic proteins

16 December 2019

cites work

1 reference

12 December 2020

Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease

1 reference

12 December 2020

Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Protein misfolding and degradation in genetic diseases.

1 reference

12 December 2020

Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cellular signaling by neural cell adhesion molecules of the immunoglobulin superfamily

1 reference

12 December 2020

Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression

1 reference

12 December 2020

Protein glucosylation and its role in protein folding

1 reference

12 December 2020

Ankyrins and cellular targeting of diverse membrane proteins to physiological sites

1 reference

12 December 2020

Severe hydrocephalus in L1-deficient mice.

1 reference

12 December 2020

Altered distribution of dopaminergic neurons in the brain of L1 null mice

1 reference

12 December 2020

Mutant rhodopsin transgene expression on a null background

1 reference

12 December 2020

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

1 reference

12 December 2020

Intracellular functions of N-linked glycans

1 reference

12 December 2020

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

1 reference

12 December 2020

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons

1 reference

12 December 2020

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Functional expression of a full-length cDNA coding for rat neural cell adhesion molecule L1 mediates homophilic intercellular adhesion and migration of cerebellar neurons

1 reference

12 December 2020

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

12 December 2020

A protein kinase activity is associated with and specifically phosphorylates the neural cell adhesion molecule L1

1 reference

12 December 2020

Biochemical characterization of different molecular forms of the neural cell adhesion molecule L1.

1 reference

12 December 2020

Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

1 reference

12 December 2020

Biosynthesis and membrane topography of the neural cell adhesion molecule L1.

1 reference

12 December 2020

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins

1 reference

12 December 2020

Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein

1 reference

12 December 2020

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

12 December 2020

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

1 reference

12 December 2020

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

1 reference

12 December 2020

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

1 reference

12 December 2020

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

1 reference

12 December 2020

Identification of the border between fibronectin type III homologous repeats 2 and 3 of the neural cell adhesion molecule L1 as a neurite outgrowth promoting and signal transducing domain

1 reference

12 December 2020

A nonneuronal isoform of cell adhesion molecule L1: tissue-specific expression and functional analysis

1 reference

12 December 2020

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

1 reference

12 December 2020

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

1 reference

12 December 2020

Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice.

1 reference

12 December 2020

Tyrosine phosphorylation of L1 family adhesion molecules: implication of the Eph kinase Cek5.

1 reference

12 December 2020

CRASH syndrome: mutations in L1CAM correlate with severity of the disease

1 reference

12 December 2020

Tissue-specific expression of the L1 cell adhesion molecule is modulated by the neural restrictive silencer element

1 reference

12 December 2020

The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction

1 reference

12 December 2020

Disruption of the mouse L1 gene leads to malformations of the nervous system

1 reference

12 December 2020

Connexin32 and X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Altered trafficking of mutant connexin32

1 reference

12 December 2020

Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.

1 reference

12 December 2020

Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

1 reference

12 December 2020

The neural restrictive silencer element can act as both a repressor and enhancer of L1 cell adhesion molecule gene expression during postnatal development

1 reference

12 December 2020

Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations

1 reference

12 December 2020

Genotype-phenotype correlation in L1 associated diseases

1 reference

12 December 2020

Identification of a homophilic binding site in immunoglobulin-like domain 2 of the cell adhesion molecule L1.

1 reference

12 December 2020

The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

1 reference

12 December 2020

10.1523/JNEUROSCI.23-01-00277.2003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12514225%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

2 references

24 January 2017