(Q39854580)

15 September 2017

Stop codon read-through of a methylmalonic aciduria mutation (English)

1 reference

15 September 2017

Nicole E Buck

1

1 reference

15 September 2017

Leonie Wood

series ordinal

2

1 reference

15 September 2017

Ruimei Hu

series ordinal

3

1 reference

15 September 2017

Heidi L Peters

series ordinal

4

1 reference

15 September 2017

12 April 2009

1 reference

Molecular Genetics and Metabolism

15 September 2017

1 reference

15 September 2017

97

1 reference

15 September 2017

4

1 reference

15 September 2017

244-249

1 reference

Causes of and diagnostic approach to methylmalonic acidurias.

15 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Structural origins of aminoglycoside specificity for prokaryotic ribosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Aminoglycoside antibiotics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Molecular aspects of renal handling of aminoglycosides and strategies for preventing the nephrotoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Engineering EGFP reporter constructs into a 200 kb human beta-globin BAC clone using GET Recombination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Pharmacokinetics of once-daily gentamicin dosing in pediatric patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

Gene induction for the treatment of methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

PTC124 targets genetic disorders caused by nonsense mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.004

10.1016/J.YMGME.2009.04.004

7 January 2021

Identifiers

DOI

1 reference

15 September 2017

1 reference