(Q34450113)

English

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

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PubMed publication ID

2 August 2017

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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

lactic acidosis

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based on heuristic

inferred from title

Thomas Meitinger

44

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Europe PubMed Central

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2 August 2017

35

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Rosalba Carrozzo

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Rosalba Carrozzo

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object named as

Ann Saada

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Johannes A Mayr

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Johannes A Mayr

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Enrico S Bertini

45

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Thomas J Nicholls

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Thomas J Nicholls

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Metodi D Metodiev

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Metodi D Metodiev

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Christopher A. Powell

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Christopher A Powell

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Joanna Rorbach

3

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Masakazu Kohda

27

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Michał Mińczuk

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Michal Minczuk

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Federica Invernizzi

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Federica Invernizzi

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Eleonora Lamantea

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Eleonora Lamantea

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Daniele Ghezzi

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Holger Prokisch

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Holger Prokisch

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Agnès Rötig

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23

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Angela Pyle

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Patrick F. Chinnery

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Patrick F Chinnery

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Massimo Zeviani

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Massimo Zeviani

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Robert William Taylor

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Robert W Taylor

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Björn Menten

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Tobias B Haack

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Thomas Wieland

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Thomas Klopstock

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Thomas Klopstock

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43

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Tim M Strom

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Peter Freisinger

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Peter Freisinger

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Robert Kopajtich

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object named as

Robert Kopajtich

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12

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Kei Murayama

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Yasushi Okazaki

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Yasushi Okazaki

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Thomas Schwarzmayr

14

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Thomas Schwarzmayr

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2 August 2017

Arnaud V Vanlander

7

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Arnaud Vanlander

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19

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Akira Ohtake

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Joél Smet

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Rudy Van Coster

46

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Rudy Van Coster

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2 August 2017

Ewen W Sommerville

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Ewen W Sommerville

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6

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Hanna Mandel

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Yoshihito Kishita

28

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Yoshihito Kishita

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author name string

Klaus Marquard

11

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Sarah F Pearce

16

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2 August 2017

Ellen Crushell

25

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2 August 2017

Yoshimi Tokuzawa

29

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2 August 2017

Zahra Assouline

30

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2 August 2017

Marlène Rio

31

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2 August 2017

François Feillet

32

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2 August 2017

Bénédict Mousson de Camaret

33

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2 August 2017

Dominique Chretien

34

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2 August 2017

Tom Sante

37

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Luc Régal

39

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Abraham Lorber

40

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2 August 2017

Asaad Khoury

41

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2 August 2017

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publication date

26 November 2014

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2 August 2017

American Journal of Human Genetics

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2 August 2017

95

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2 August 2017

6

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2 August 2017

708-720

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Mitochondria: impaired mitochondrial translation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Mitochondrial tRNA mutations and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

A conserved modified wobble nucleoside (mcm5s2U) in lysyl-tRNA is required for viability in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Molecular mechanism of codon recognition by tRNA species with modified uridine in the first position of the anticodon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Assessment of the mitochondrial respiratory chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

6 July 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

27 October 2018

The mitochondrial proteome database: MitoP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

27 October 2018

The role of modifications in codon discrimination by tRNA(Lys)UUU.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

27 October 2018

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259976

27 October 2018

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25434004

12 December 2020

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Identifiers

10.1016/J.AJHG.2014.10.017

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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