The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. (Q48256255)

10 February 2018

title

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. (English)

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10 February 2018

Elisabeth Tournier-Lasserve

author

8

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10 February 2018

Anne Joutel

10

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10 February 2018

Michel Cohen-Tannoudji

object named as

Michel Cohen-Tannoudji

9

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author name string

Marie Monet

1

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10 February 2018

Valérie Domenga

2

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10 February 2018

Barbara Lemaire

3

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10 February 2018

Céline Souilhol

4

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10 February 2018

Francina Langa

5

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10 February 2018

Charles Babinet

6

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10 February 2018

Thomas Gridley

7

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10 February 2018

language of work or name

English

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publication date

1 March 2007

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10 February 2018

published in

Human Molecular Genetics

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10 February 2018

volume

16

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10 February 2018

issue

8

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10 February 2018

page(s)

982-992

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10 February 2018

Vascular cognitive impairment.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

The Notch1 receptor is cleaved constitutively by a furin-like convertase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

A novel proteolytic cleavage involved in Notch signaling: the role of the disintegrin-metalloprotease TACE

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Notch signaling: cell fate control and signal integration in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Notch3 is required for arterial identity and maturation of vascular smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

CADASIL-causing mutations do not alter Notch3 receptor processing and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

DNER acts as a neuron-specific Notch ligand during Bergmann glial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

The nephroblastoma overexpressed gene (NOV/ccn3) protein associates with Notch1 extracellular domain and inhibits myoblast differentiation via Notch signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

RBP-L, a transcription factor related to RBP-Jkappa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Nas transgenic mouse line allows visualization of Notch pathway activity in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

An activity of Notch regulates JNK signalling and affects dorsal closure in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

CSL-independent Notch signalling: a checkpoint in cell fate decisions during development?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Novel Notch alleles reveal a Deltex-dependent pathway repressing neural fate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM042

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM042

1 reference

10 February 2018

PubMed ID

17331978

1 reference

10 February 2018