Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. (Q34051012)

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20 January 2020

title

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease (English)

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20 January 2020

3

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20 January 2020

Christine R. Kaneski

series ordinal

4

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20 January 2020

author name string

Stephen G Kaler

series ordinal

1

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20 January 2020

Jingrong Tang

series ordinal

2

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20 January 2020

publication date

1 January 2009

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20 January 2020

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20 January 2020

volume

65

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20 January 2020

issue

1

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20 January 2020

page(s)

108-113

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describes a project that uses

20 January 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Neonatal diagnosis and treatment of Menkes disease

1 reference

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Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

5 July 2018

1 reference

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

5 July 2018

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Functional copper transport explains neurologic sparing in occipital horn syndrome

5 July 2018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917729

Early nonsense: mRNA decay solves a translational problem

5 July 2018

1 reference

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Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

5 July 2018

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Recoding in bacteriophages and bacterial IS elements.

5 July 2018

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Readthrough of dystrophin stop codon mutations induced by aminoglycosides

5 July 2018

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The major 5' determinant in stop codon read-through involves two adjacent adenines

5 July 2018

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Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs

5 July 2018

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Rabbit beta-globin is extended beyond its UGA stop codon by multiple suppressions and translational reading gaps

5 July 2018

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Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

5 July 2018

1 reference

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Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

5 July 2018

1 reference

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Menkes disease mutations and response to early copper histidine treatment.

5 July 2018

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

5 July 2018

1 reference

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Suppressed nonsense mutations in the araC gene of Escherichia coli provide three novel variant proteins

5 July 2018

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The signal for a leaky UAG stop codon in several plant viruses includes the two downstream codons

5 July 2018

1 reference

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Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917729

Recognition of UGA as a selenocysteine codon in Type I deiodinase requires sequences in the 3′ untranslated region

28 October 2018

1 reference

PubMed

12 December 2020

Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease

1 reference

PubMed

12 December 2020

Premature translation termination mutations are efficiently suppressed in a highly conserved region of yeast Ste6p, a member of the ATP-binding cassette (ABC) transporter family

1 reference

PubMed

12 December 2020

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12 December 2020

Identifiers

DOI

10.1002/ANA.21576

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19194885%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

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20 January 2020

PubMed publication ID

19194885

1 reference