(Q27320993)

21 June 2017

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy (English)

1 reference

21 June 2017

1 reference

24

Thomas Meitinger

Thomas

Meitinger

1 reference

19 October 2023

25

Holger Prokisch

Holger

Prokisch

1 reference

19 October 2023

Valérie Gailus-Durner

21

object named as

Valérie Gailus-Durner

Valérie

Gailus-Durner

1 reference

21 June 2017

5

Anja Schrewe

Anja

Schrewe

1 reference

21 June 2017

7

Ilona Mossbrugger

Ilona

Mossbrugger

1 reference

21 June 2017

16

Frauke Neff

Frauke

Neff

1 reference

21 June 2017

Martin Hrabě de Angelis

26

object named as

Martin Hrabě de Angelis

Martin Hrabě

de Angelis

1 reference

19 October 2023

8

Julia Calzada-Wack

Julia

Calzada-Wack

1 reference

21 June 2017

Lore Becker

1

Lore

Becker

1 reference

19 October 2023

Sabine M Hölter

6

Sabine M

Hölter

1 reference

19 October 2023

10

Ilka Wittig

Ilka

Wittig

1 reference

21 June 2017

23

Wolfgang Wurst

Wolfgang

Wurst

1 reference

21 June 2017

22

Helmut Fuchs

Helmut

Fuchs

1 reference

21 June 2017

27

Thomas Klopstock

Thomas

Klopstock

1 reference

21 June 2017

2

Eva Kling

Eva

Kling

1 reference

21 June 2017

3

Evelyn Schiller

Evelyn

Schiller

1 reference

21 June 2017

4

Ramona Zeh

Ramona

Zeh

1 reference

21 June 2017

11

Iulia Dumitru

Iulia

Dumitru

1 reference

21 June 2017

14

Michaela Aichler

Michaela

Aichler

1 reference

21 June 2017

15

Dirk Janik

Dirk

Janik

1 reference

21 June 2017

Leticia Quintanilla-Fend

18

object named as

Leticia Quintanilla-Fend

Leticia

Quintanilla-Fend

1 reference

21 June 2017

19

Thomas Floss

Thomas

Floss

1 reference

21 June 2017

20

Raffi Bekeredjian

Raffi

Bekeredjian

1 reference

21 June 2017

9

Valentina Strecker

Valentina

Strecker

1 reference

21 June 2017

Tina Wenz

12

Tina

Wenz

1 reference

21 June 2017

Andreas Bender

13

Andreas

Bender

1 reference

21 June 2017

Axel Walch

17

Axel

Walch

1 reference

21 June 2017

language of work or name

English

0 references

publication date

15 December 2014

1 reference

21 June 2017

1 reference

21 June 2017

9

1 reference

21 June 2017

12

1 reference

21 June 2017

e114918

1 reference

Creative Commons Attribution 4.0 International

21 June 2017

start time

15 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Complex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Human NADH:ubiquinone oxidoreductase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondria and arrhythmias.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondrial diseases: translation matters

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Importance of the bioenergetic reserve capacity in response to cardiomyocyte stress induced by 4-hydroxynonenal

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Acute infantile liver failure due to mutations in the TRMU gene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

The pathophysiology of mitochondrial disease as modeled in the mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Systemic first-line phenotyping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2-mediated oxidative insult in H9C2 myocardial cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Nuclear genes and mitochondrial translation: a new class of genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

The genetics and pathology of oxidative phosphorylation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266617

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

31 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0114918

Introducing the German Mouse Clinic: open access platform for standardized phenotyping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0114918

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0114918

Ischemic defects in the electron transport chain increase the production of reactive oxygen species from isolated rat heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0114918

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0114918

10.1371/JOURNAL.PONE.0114918

21 January 2018

Identifiers

DOI

1 reference

21 June 2017

0 references

0 references

1 reference