Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression (Q74046430)

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8 November 2019

title

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

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8 November 2019

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H D Moulding

1

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8 November 2019

R L Martuza

series ordinal

2

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8 November 2019

S D Rabkin

series ordinal

3

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8 November 2019

publication date

1 August 2000

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8 November 2019

published in

Journal of Neuroscience

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8 November 2019

volume

20

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8 November 2019

issue

15

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8 November 2019

page(s)

5696-5702

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

8 November 2019

cites work

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12 December 2020

Preferential addition of newly synthesized membrane protein at axonal growth cones

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12 December 2020

Expression of a functional foreign gene in adult mammalian brain following in Vivo transfer via a herpes simplex virus type 1 defective viral vector.

1 reference

12 December 2020

Tyrosine phosphorylation at a site highly conserved in the L1 family of cell adhesion molecules abolishes ankyrin binding and increases lateral mobility of neurofascin

1 reference

12 December 2020

A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.

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

Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex

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

An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

1 reference

12 December 2020

The neural adhesion molecule L1 is phosphorylated on tyrosine and serine residues.

1 reference

12 December 2020

Casein kinase II phosphorylates the neural cell adhesion molecule L1.

1 reference

12 December 2020

Phosphorylation-dependent regulation of axon fasciculation

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12 December 2020

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

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12 December 2020

Protein glycosylation in development and disease

1 reference

12 December 2020

Characterization of a temperature-sensitive, DNA-positive, nontransforming mutant of simian virus 40

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

Cell adhesion molecules in the early developing mouse retina: retinal neurons show preferential outgrowth in vitro on L1 but not N-CAM.

1 reference

12 December 2020

Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1

1 reference

12 December 2020

Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity

1 reference

12 December 2020

Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit

1 reference

12 December 2020

Genotype-phenotype correlation in L1 associated diseases

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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

Structural requirements for association of neurofascin with ankyrin

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12 December 2020

The polarized sorting of membrane proteins expressed in cultured hippocampal neurons using viral vectors

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12 December 2020

Expression of L1 in primary astrocytes via a defective herpes simplex virus vector promotes neurite outgrowth and neural cell migration

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12 December 2020

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

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12 December 2020

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

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12 December 2020

Identification of a defect in the intracellular trafficking of a Kell blood group variant

1 reference

12 December 2020

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

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12 December 2020

Axon/dendrite targeting of metabotropic glutamate receptors by their cytoplasmic carboxy-terminal domains.

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12 December 2020

The Arg-Gly-Asp motif in the cell adhesion molecule L1 promotes neurite outgrowth via interaction with the alphavbeta3 integrin

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12 December 2020

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

1 reference

12 December 2020

The cell adhesion molecule L1 has a specific role in neural cell migration

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

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12 December 2020

Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily

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12 December 2020

Neurite outgrowth patterns in cerebellar microexplant cultures are affected by antibodies to the cell surface glycoprotein L1.

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12 December 2020

Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules

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12 December 2020

Mutational analysis of the L1 neuronal cell adhesion molecule identifies membrane-proximal amino acids of the cytoplasmic domain that are required for cytoskeletal anchorage

1 reference

12 December 2020

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

1 reference

12 December 2020

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

1 reference

12 December 2020

Impaired neurite outgrowth of src-minus cerebellar neurons on the cell adhesion molecule L1.

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12 December 2020

Targeting of the synaptic vesicle protein synaptobrevin in the axon of cultured hippocampal neurons: evidence for two distinct sorting steps.

1 reference

12 December 2020

Structural requirements for outside-in and inside-out signaling by Drosophila neuroglian, a member of the L1 family of cell adhesion molecules

1 reference

12 December 2020

Cis-activation of L1-mediated ankyrin recruitment by TAG-1 homophilic cell adhesion

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12 December 2020

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

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12 December 2020

Cargo can modulate COPII vesicle formation from the endoplasmic reticulum

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12 December 2020

Co-expression of two gene products in the CNS using double-cassette defective herpes simplex virus vectors.

1 reference

12 December 2020

A single immunoglobulin-like domain of the human neural cell adhesion molecule L1 supports adhesion by multiple vascular and platelet integrins

1 reference

12 December 2020

Cloning and sequencing of human intestinal alkaline phosphatase cDNA

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1523/JNEUROSCI.20-15-05696.2000

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10908608%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10908608%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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