Functional analysis of a recurrent missense mutation in Notch3 in CADASIL (Q35489815)

8 August 2017

title

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL (English)

1 reference

8 August 2017

T Haritunians

1

1 reference

8 August 2017

T Chow

2

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8 August 2017

R P J De Lange

3

1 reference

8 August 2017

J T Nichols

4

1 reference

8 August 2017

D Ghavimi

5

1 reference

8 August 2017

N Dorrani

6

1 reference

8 August 2017

D M St Clair

7

1 reference

8 August 2017

G Weinmaster

8

1 reference

8 August 2017

C Schanen

9

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 September 2005

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

8 August 2017

published in

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8 August 2017

volume

76

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8 August 2017

issue

9

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8 August 2017

page(s)

1242-1248

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describes a project that uses

8 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1739793/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

27 July 2018

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Notch 1 and 3 receptor signaling modulates vascular smooth muscle cell growth, apoptosis, and migration via a CBF-1/RBP-Jk dependent pathway

27 July 2018

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Dual roles for the Notch target gene Hes-1 in the differentiation of 3T3-L1 preadipocytes

27 July 2018

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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

27 July 2018

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

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

27 July 2018

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CADASIL Notch3 mutant proteins localize to the cell surface and bind ligand

27 July 2018

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Members of the Jagged/Notch gene families are expressed in injured arteries and regulate cell phenotype via alterations in cell matrix and cell-cell interaction

27 July 2018

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Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

27 July 2018

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Fringe differentially modulates Jagged1 and Delta1 signalling through Notch1 and Notch2.

27 July 2018

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Dll4, a novel Notch ligand expressed in arterial endothelium

27 July 2018

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

27 July 2018

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Calcium depletion dissociates and activates heterodimeric notch receptors

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Vasculopathic changes of CADASIL can be focal in skin biopsies

27 July 2018

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Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

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Presenilin is required for activity and nuclear access of Notch in Drosophila

27 July 2018

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

27 July 2018

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27 July 2018

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Evidence for a physical interaction between presenilin and Notch

27 July 2018

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Delta-1 activation of notch-1 signaling results in HES-1 transactivation.

27 July 2018

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

27 July 2018

1 reference

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

27 July 2018

1 reference

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An antisense oligonucleotide to the notch ligand jagged enhances fibroblast growth factor-induced angiogenesis in vitro

27 July 2018

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Expression patterns of Jagged, Delta1, Notch1, Notch2, and Notch3 genes identify ligand-receptor pairs that may function in neural development

27 July 2018

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

27 July 2018

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Constitutively active human Notch1 binds to the transcription factor CBF1 and stimulates transcription through a promoter containing a CBF1-responsive element

27 July 2018

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Truncated mammalian Notch1 activates CBF1/RBPJk-repressed genes by a mechanism resembling that of Epstein-Barr virus EBNA2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

An activated Notch suppresses neurogenesis and myogenesis but not gliogenesis in mammalian cells.

27 July 2018

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Jagged: a mammalian ligand that activates Notch1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

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

27 July 2018

1 reference

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Signalling downstream of activated mammalian Notch

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

27 July 2018

1 reference

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pEF-BOS, a powerful mammalian expression vector

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Abnormal vasoconstrictor responses to angiotensin II and noradrenaline in isolated small arteries from patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Determinants of Notch-3 receptor expression and signaling in vascular smooth muscle cells: implications in cell-cycle regulation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

A secreted Delta1-Fc fusion protein functions both as an activator and inhibitor of Notch1 signaling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Nocturnal blood pressure dip in CADASIL.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Conservation of the biochemical mechanisms of signal transduction among mammalian Notch family members

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Ligand-induced signaling in the absence of furin processing of Notch1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Structural requirements for notch signalling with delta and serrate during the development and patterning of the wing disc of Drosophila.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Transient Notch activation initiates an irreversible switch from neurogenesis to gliogenesis by neural crest stem cells

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Screening British CADASIL families for mutations in the NOTCH3 gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Notch receptor activation inhibits oligodendrocyte differentiation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

Nuclear access and action of notch in vivo

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

The intracellular domain of mouse Notch: a constitutively activated repressor of myogenesis directed at the basic helix-loop-helix region of MyoD.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

The suppressor of hairless protein participates in notch receptor signaling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739793

A ligand-induced extracellular cleavage regulates gamma-secretase-like proteolytic activation of Notch1

26 September 2018

1 reference

12 December 2020

Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL

1 reference

12 December 2020

Notch3 mutations and the potential for diagnostic testing for CADASIL

1 reference

12 December 2020

Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2004.051854

1 reference

release_lasssossnbfgffazbupmbgpfzy

8 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lasssossnbfgffazbupmbgpfzy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1739793

1 reference

8 August 2017

1 reference