DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. (Q37144701)

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21 January 2020

title

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6 (English)

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21 January 2020

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21 January 2020

Olga L Gurvich

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21 January 2020

Baijayanta Maiti

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21 January 2020

Robert B Weiss

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21 January 2020

Gaurav Aggarwal

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21 January 2020

Michael T Howard

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21 January 2020

publication date

1 April 2009

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21 January 2020

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21 January 2020

volume

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21 January 2020

issue

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21 January 2020

page(s)

633-640

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Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay

21 January 2020

cites work

1 reference

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The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Rapid direct sequence analysis of the dystrophin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells

6 September 2017

1 reference

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Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Influences of mRNA secondary structure on initiation by eukaryotic ribosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements

3 September 2018

1 reference

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Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

3 September 2018

1 reference

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DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663021

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

3 September 2018

1 reference

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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

3 September 2018

1 reference

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Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

3 September 2018

1 reference

12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

12 December 2020

The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon

1 reference

12 December 2020

Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain

1 reference

12 December 2020

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.20913

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21 January 2020

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21 January 2020

PubMed publication ID

19206170

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