(Q92874536)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Maria Fazzari

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Angelisa Frasca

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

author name string

Domenico Giorgio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Matteo Bizzotto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Bruria Ben Zeev

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Mirko Pinotti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Nicoletta Landsberger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Dario Balestra

1

0 references

Maria Fazzari

4

0 references

Angelisa Frasca

8

0 references

language of work or name

English

0 references

publication date

24 August 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

2 May 2020

January 2019

0 references

https://www.mdpi.com/1422-0067/20/17/4130

0 references

published in

International Journal of Molecular Sciences

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

volume

20

1 reference

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2 May 2020

issue

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

2 May 2020

page(s)

4130

0 references

copyright license

start time

24 August 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A).

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Therapeutic activity of modified U1 core spliceosomal particles

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Rescue of coagulation factor VII function by the U1+5A snRNA.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Comparison of splice sites in mammals and chicken

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

Analysis of canonical and non-canonical splice sites in mammalian genomes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6747535

11 February 2021

Identifiers

DOI

10.3390/IJMS20174130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31450582%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference