Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. (Q39970746)

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8 March 2020

title

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept (English)

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8 March 2020

5

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8 March 2020

Annemieke Aartsma-Rus

8

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8 March 2020

Saskia Lesnik Oberstein

9

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8 March 2020

author name string

Julie W Rutten

1

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8 March 2020

Hans G Dauwerse

2

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8 March 2020

Dorien J M Peters

3

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8 March 2020

Andrew Goldfarb

4

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8 March 2020

Christof Haffner

6

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8 March 2020

Gert-Jan B van Ommen

7

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language of work or name

English

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publication date

19 February 2016

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8 March 2020

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8 March 2020

volume

139

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8 March 2020

page(s)

1123-1135

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issue

Pt 4

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Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites

8 March 2020

cites work

1 reference

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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

21 January 2018

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Spinal muscular atrophy: therapeutic strategies

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

21 January 2018

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Antisense oligonucleotides in therapy for neurodegenerative disorders

21 January 2018

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Mipomersen sodium: first global approval

21 January 2018

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Notch3 is necessary for blood vessel integrity in the central nervous system

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

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

21 January 2018

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The novel Notch homologue mouse Notch 3 lacks specific epidermal growth factor-repeats and is expressed in proliferating neuroepithelium

21 January 2018

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

21 January 2018

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Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL

21 January 2018

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

21 January 2018

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Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography study

21 January 2018

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A novel mechanism of cyclooxygenase-2 inhibition involving interactions with Ser-530 and Tyr-385

21 January 2018

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

21 January 2018

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Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data

21 January 2018

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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

21 January 2018

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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

21 January 2018

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Evolutionary scenarios of Notch proteins.

21 January 2018

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Overview on applications of antisense-mediated exon skipping

21 January 2018

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Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

21 January 2018

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WHAT IF: a molecular modeling and drug design program

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWW011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912635%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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