(Q34425128)

2 August 2017

title

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus (English)

1 reference

2 August 2017

Nicole E Buck

1

1 reference

2 August 2017

Harriet Dashnow

2

1 reference

2 August 2017

James J Pitt

3

1 reference

2 August 2017

Leonie R Wood

4

1 reference

2 August 2017

Heidi L Peters

5

1 reference

2 August 2017

language of work or name

English

0 references

publication date

14 September 2012

1 reference

2 August 2017

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2 August 2017

volume

7

1 reference

2 August 2017

issue

9

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2 August 2017

page(s)

e44974

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

14 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mouse models for methylmalonic aciduria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Metabolic characterization of a mouse deficient in all known leptin receptor isoforms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Causes of and diagnostic approach to methylmalonic acidurias.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

The Natural History of the Inherited Methylmalonic Acidemias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

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.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443245

Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23024777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23024777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0044974

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference