(Q28258107)

1

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Sergio Papa

object named as

Sergio Papa

5

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author name string

Damiano Panelli

2

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Alessandra Torraco

Listening to silence and understanding nonsense: exonic mutations that affect splicing

3

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language of work or name

English

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publication date

4 July 2005

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published in

FEBS Letters

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volume

579

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issue

17

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page(s)

3770-6

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

The nuclear encoded subunits of complex I from bovine heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Low conservation of alternative splicing patterns in the human and mouse genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Coupled transcription and translation within nuclei of mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

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

21 January 2018

1 reference

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Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

Boundary-independent polar nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.05.035