(Q39521496)

English

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation

scientific article published on 17 June 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

endoplasmic reticulum

0 references

author name string

Kouichi Itoh

1

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Kanako Fujisaki

2

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Masatomo Watanabe

3

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

publication date

17 June 2011

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Journal of Neuroscience Research

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

89

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

1637-1645

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Alternative use of a mini exon of the L1 gene affects L1 binding to neural ligands

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Neural cell adhesion molecules in activity-dependent development and synaptic plasticity

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Genotype-phenotype correlation in L1 associated diseases

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Quality control in the secretory pathway

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Dephosphorylation and internalization of cell adhesion molecule L1 induced by theta burst stimulation in rat hippocampus

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

ER quality control: the cytoplasmic connection

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Assembly of asparagine-linked oligosaccharides

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Neurite fasciculation mediated by complexes of axonin-1 and Ng cell adhesion molecule

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

An L1-like molecule, the 8D9 antigen, is a potent substrate for neurite extension

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

L1 mono- and polyclonal antibodies modify cell migration in early postnatal mouse cerebellum.

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Glycosidases of the asparagine-linked oligosaccharide processing pathway

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

L1CAM ubiquitination facilitates its lysosomal degradation

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Synaptic-like microvesicles of neuroendocrine cells originate from a novel compartment that is continuous with the plasma membrane and devoid of transferrin receptor

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

An updated and upgraded L1CAM mutation database

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

The role of L1 in axon pathfinding and fasciculation

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Prenatal identification of a novel R937P L1CAM missense mutation

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJNR.22695

21 January 2018

Identifiers

10.1002/JNR.22695

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

release_yhm5fgytxbdb7k36od7mnjxpv4

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

ResearchGate publication ID

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