(Q36662823)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

main subject

mucopolysaccharidosis VI

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Alberto Auricchio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Rosa Bartolomeo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Elena V Polishchuk

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Roman S Polishchuk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

publication date

13 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

363-371

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-012-9521-y

13 February 2020

exact match

0 references

cites work

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Mucopolysaccharidosis VI.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Introducing sense into nonsense in treatments of human genetic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

PTC124 targets genetic disorders caused by nonsense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Stop-codon read-through for patients affected by a lysosomal storage disorder.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Polypeptide chain termination and stop codon readthrough on eukaryotic ribosomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Mannose 6-phosphate receptors and lysosomal enzyme targeting

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590409

Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle.

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-012-9521-Y

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-012-9521-Y

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22971959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22971959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22971959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-012-9521-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

22971959

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971959%20AND%20SRC:MED&resulttype=core&format=json