(Q52559115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Helena Motaln

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Boris Rogelj

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

author name string

Irving Donadon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Mirko Pinotti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Katarzyna Rajkowska

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Elena Barbon

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Elisabetta Morini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Federico Mingozzi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Susan A Slaugenhaupt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Franco Pagani

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

publication date

1 July 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

issue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

page(s)

2466-2476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

25 March 2020

copyright license

start time

26 April 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6030917/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model

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RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia

15 July 2018

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15 July 2018

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

15 July 2018

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Familial Dysautonomia: Mechanisms and Models

15 July 2018

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Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing

15 July 2018

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Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

15 July 2018

1 reference

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Familial dysautonomia: History, genotype, phenotype and translational research

15 July 2018

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

15 July 2018

1 reference

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Therapeutic activity of modified U1 core spliceosomal particles

15 July 2018

1 reference

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Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches

15 July 2018

1 reference

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Systemic AAVrh10 provides higher transgene expression than AAV9 in the brain and the spinal cord of neonatal mice

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Long-term safety and efficacy of factor IX gene therapy in hemophilia B.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Intraperitoneal administration of AAV9-shRNA inhibits target gene expression in the dorsal root ganglia of neonatal mice

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Quantification of lentiviral vector copy numbers in individual hematopoietic colony-forming cells shows vector dose-dependent effects on the frequency and level of transduction.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Central autonomic dysfunction with defective lacrimation; report of five cases.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Hereditary sensory and autonomic neuropathies: types II, III, and IV

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

A world without pain or tears

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Familial dysautonomia: a review of the current pharmacological treatments

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Genomic variants in exons and introns: identifying the splicing spoilers

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Listening to silence and understanding nonsense: exonic mutations that affect splicing

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Purification and characterization of the human elongator complex

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Familial dysautonomia is caused by mutations of the IKAP gene

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Selective retinal ganglion cell loss in familial dysautonomia.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Clinical neuro-ophthalmic findings in familial dysautonomia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Neonatal intraperitoneal or intravenous injections of recombinant adeno-associated virus type 8 transduce dorsal root ganglia and lower motor neurons

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Comparative analysis detects dependencies among the 5' splice-site positions

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6030917

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29701768

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29701768

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDY151

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference