(Q39078944)

8 September 2017

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations (English)

1 reference

8 September 2017

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Liliana Matos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Isaac Canals

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Peter Jordan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

D Grinberg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sandra Alves

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

9

Alexey V Pshezhetsky

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Larbi Dridi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Yoo Choi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lourdes R Desviat

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Belén Pérez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lluïsa Vilageliu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

10 December 2014

1 reference

Orphanet Journal of Rare Diseases

8 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

copyright license

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0180-y

0 references

cites work

Emerging novel concept of chaperone therapies for protein misfolding diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Unusual splice site mutations disrupt FANCA exon 8 definition

9 September 2017

1 reference

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Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

The spliceosome: design principles of a dynamic RNP machine

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Sanfilippo syndrome: a mini-review

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Pharmacological chaperones: potential treatment for conformational diseases.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

U1 snRNA promotes the selection of nearby 5' splice sites by U6 snRNA in mammalian cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

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

25 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

17 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

True genes for human U1 small nuclear RNA. Copy number, polymorphism, and methylation.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279800

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25491247

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-014-0180-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25491247%20AND%20SRC:MED&resulttype=core&format=json