Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene (Q41283457)

29 September 2017

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene (English)

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29 September 2017

Mark Helm

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Laurence Bindoff

object named as

Laurence A Bindoff

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author name string

Katharina Maniura-Weber

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29 September 2017

Katrin Engemann

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29 September 2017

Sabrina Eckertz

4

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29 September 2017

Myriam Möllers

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29 September 2017

Matthias Schauen

6

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29 September 2017

Armine Hayrapetyan

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29 September 2017

Jürgen-Christoph von Kleist-Retzow

8

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29 September 2017

Robert N Lightowlers

9

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29 September 2017

Rudolf J Wiesner

11

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29 September 2017

27 November 2006

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29 September 2017

Nucleic Acids Research

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29 September 2017

34

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29 September 2017

22

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29 September 2017

6404-6415

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describes a project that uses

29 September 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1702489/fullTextXML

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cites work

Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure

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A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations

1 October 2017

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Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

1 October 2017

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1 October 2017

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Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

1 October 2017

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Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase.

1 October 2017

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1 October 2017

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A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)

1 October 2017

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The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 October 2017

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Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

1 October 2017

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The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

1 October 2017

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Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

1 October 2017

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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 October 2017

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Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).

1 October 2017

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The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA

1 October 2017

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Pathophysiology of the MELAS 3243 Transition Mutation

1 October 2017

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Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

1 October 2017

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Isolation and characterization of human muscle cells

1 October 2017

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 October 2017

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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria

1 October 2017

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 October 2017

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Ribozyme processed tRNA transcripts with unfriendly internal promoter for T7 RNA polymerase: production and activity

1 October 2017

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

14 June 2018

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The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702489

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702489

A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition.

19 August 2018

1 reference

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Towards understanding human mitochondrial leucine aminoacylation identity.

19 August 2018

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Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations

19 August 2018

1 reference

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Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

19 August 2018

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Mitochondrial DNA and RNA processing in MELAS.

19 August 2018

1 reference

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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

19 August 2018

1 reference

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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

19 August 2018

1 reference

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Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene

19 August 2018

1 reference

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Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

4 November 2018

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

1 reference

12 December 2020

Isolation of RNA using guanidinium salts

1 reference

12 December 2020

Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases

1 reference

12 December 2020

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GKL727

1 reference

29 September 2017

1 reference

29 September 2017

PubMed publication ID

17130166

1 reference