(Q50223884)

27 February 2018

title

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies. (English)

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27 February 2018

Rita Horvath

6

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Patrick Yu-Wai-Man

4

object named as

Patrick Yu-Wai-Man

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27 February 2018

5

Veronika Boczonadi

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27 February 2018

author name string

Marina Bartsakoulia

1

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27 February 2018

Juliane S Mϋller

2

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Aurora Gomez-Duran

3

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27 February 2018

publication date

1 August 2016

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27 February 2018

Journal of neuromuscular diseases

published in

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27 February 2018

volume

3

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27 February 2018

issue

3

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27 February 2018

page(s)

363-379

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27 February 2018

The clinical maze of mitochondrial neurology

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

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

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

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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

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

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

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

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Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

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Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

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

21 January 2018

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

21 January 2018

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Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

0 references

1 reference

27 February 2018