Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus. (Q39416813)

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19 January 2020

title

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus (English)

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19 January 2020

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10

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19 January 2020

author name string

Mariola Marx

1

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19 January 2020

Simone Diestel

2

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19 January 2020

Muriel Bozon

3

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19 January 2020

Laura Keglowich

4

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19 January 2020

Nathalie Drouot

5

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19 January 2020

Elisabeth Bouché

6

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19 January 2020

Thierry Frebourg

7

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19 January 2020

Marie Minz

8

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19 January 2020

Pascale Saugier-Veber

9

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19 January 2020

Michael K E Schäfer

11

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19 January 2020

publication date

6 January 2012

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19 January 2020

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19 January 2020

volume

13

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19 January 2020

issue

1

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19 January 2020

page(s)

49-59

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Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

An updated and upgraded L1CAM mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

L1CAM malfunction in the nervous system and human carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Activation of EGF receptor kinase by L1-mediated homophilic cell interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Activation of the MAPK signal cascade by the neural cell adhesion molecule L1 requires L1 internalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

FAK-MAPK-dependent adhesion disassembly downstream of L1 contributes to semaphorin3A-induced collapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

High-level and high-throughput recombinant protein production by transient transfection of suspension-growing human 293-EBNA1 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Reelin activates SRC family tyrosine kinases in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

NCAM is ubiquitylated, endocytosed and recycled in neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

L1CAM ubiquitination facilitates its lysosomal degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Ethanol inhibits L1-mediated neurite outgrowth in postnatal rat cerebellar granule cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Heat shock protein 90 in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Novel ubiquitin-dependent quality control in the endoplasmic reticulum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Protein folding and quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Functional rescue of beta-adrenoceptor dimerization and trafficking by pharmacological chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

Efficient transfection of DNA or shRNA vectors into neurons using magnetofection

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0307-4

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

21 January 2018

1 reference

12 December 2020

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

1 reference

12 December 2020

Production of antipolyubiquitin monoclonal antibodies and their use for characterization and isolation of polyubiquitinated proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait

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

Substrate-bound human recombinant L1 selectively promotes neuronal attachment and outgrowth in the presence of astrocytes and fibroblasts

1 reference

12 December 2020

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus

1 reference

12 December 2020

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

1 reference

12 December 2020

Chemical and pharmacological chaperones as new therapeutic agents

1 reference

12 December 2020

10.1007/S10048-011-0307-4

Identifiers

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release_xrk5jpauonf57ghy2ihnchh3bi

19 January 2020

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