(Q50517153)

14 March 2018

title

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. (English)

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14 March 2018

author name string

Rocío Sánchez-Alcudia

1

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14 March 2018

Belén Pérez

2

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14 March 2018

Magdalena Ugarte

3

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14 March 2018

Lourdes R Desviat

4

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14 March 2018

publication date

16 April 2012

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

33

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14 March 2018

issue

6

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14 March 2018

page(s)

973-980

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14 March 2018

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

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Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

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In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

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

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Stop codon read-through of a methylmalonic aciduria mutation

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Functional characterization of PCCA mutations causing propionic acidemia.

21 January 2018

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Methylmalonic and propionic acidaemias: management and outcome

21 January 2018

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

21 January 2018

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Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

21 January 2018

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Nonaminoglycoside compounds induce readthrough of nonsense mutations

21 January 2018

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Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

21 January 2018

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In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

21 January 2018

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Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases

21 January 2018

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Predominance of six different hexanucleotide recoding signals 3' of read-through stop codons.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Crystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

21 January 2018

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Introducing sense into nonsense in treatments of human genetic diseases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Glutamine is incorporated at the nonsense codons UAG and UAA in a suppressor-free Escherichia coli strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22047

Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

7 January 2021

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

7 January 2021

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

7 January 2021

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

7 January 2021

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22047

7 January 2021

Identifiers

DOI

10.1002/HUMU.22047

1 reference

14 March 2018

1 reference

14 March 2018