(Q33641769)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

Cristina Dallabona

object named as

Cristina Dallabona

2

0 references

Enrico Baruffini

object named as

Enrico Baruffini

1

0 references

Federica Invernizzi

object named as

Federica Invernizzi

3

0 references

Claudia Donnini

object named as

Claudia Donnini

8

0 references

Eleonora Lamantea

object named as

Eleonora Lamantea

7

0 references

object named as

Daniele Ghezzi

21

0 references

Holger Prokisch

object named as

Holger Prokisch

17

0 references

Emma L. Blakely

6

object named as

Emma L Blakely

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Massimo Zeviani

20

object named as

Massimo Zeviani

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Robert William Taylor

18

object named as

Robert W Taylor

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

John W Yarham

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Laura Melchionda

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Saikat Santra

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Suresh Vijayaraghavan

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Helen P Roper

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Alberto Burlina

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Robert Kopajtich

13

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Anett Walther

14

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tim M Strom

15

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tobias B Haack

16

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ileana Ferrero

19

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

17 September 2013

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1501-1509

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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=4028987

21 June 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=4028987

21 June 2018

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Human diseases with impaired mitochondrial protein synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 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=4028987

21 June 2018

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Structure-Function Analysis of Escherichia coli MnmG (GidA), a Highly Conserved tRNA-Modifying Enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Down-regulation of CXCR4 expression by SDF-KDEL in CD34(+) hematopoietic stem cells: An anti-human immunodeficiency virus strategy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Conserved cysteine residues of GidA are essential for biogenesis of 5-carboxymethylaminomethyluridine at tRNA anticodon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Crystal structures of the conserved tRNA-modifying enzyme GidA: implications for its interaction with MnmE and substrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Modified uridines with C5-methylene substituents at the first position of the tRNA anticodon stabilize U.G wobble pairing during decoding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Sequence-structure-function analysis of the bifunctional enzyme MnmC that catalyses the last two steps in the biosynthesis of hypermodified nucleoside mnm5s2U in tRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Transformation of yeast by lithium acetate/single-stranded carrier DNA/polyethylene glycol method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Improvement of reading frame maintenance is a common function for several tRNA modifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Function, mechanism and regulation of bacterial ribonucleases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 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=4028987

21 June 2018

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

A family of low and high copy replicative, integrative and single-strandedS. cerevisiae/E. coli shuttle vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028987

21 June 2018

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

Modified nucleoside dependent Watson-Crick and wobble codon binding by tRNALysUUU species

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

Accurate translation of the genetic code depends on tRNA modified nucleosides.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22393

21 January 2018

Aminoacylation of hypomodified tRNAGlu in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/23929671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible conformations of 5-aminomethyluridine derivatives recognizing a G at the third position of the codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/23929671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/23929671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 2-thiouridine derivative in tRNAGlu is a positive determinant for aminoacylation by Escherichia coli glutamyl-tRNA synthetase

1 reference

https://pubmed.ncbi.nlm.nih.gov/23929671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22393

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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