Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes (Q45238261)

11 December 2017

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes (English)

1 reference

11 December 2017

Roberto Anitori

1

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11 December 2017

Kara Manning

2

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11 December 2017

Franklin Quan

3

1 reference

11 December 2017

Richard G Weleber

4

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11 December 2017

Neil R M Buist

5

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11 December 2017

Eric A Shoubridge

6

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11 December 2017

Nancy G Kennaway

7

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11 December 2017

15 December 2004

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Molecular Genetics and Metabolism

11 December 2017

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11 December 2017

84

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11 December 2017

2

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11 December 2017

176-188

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Mitochondrial respiratory-chain diseases

11 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Mitochondrial DNA mutations in human disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Human mitochondrial DNA diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Mitochondrial encephalomyopathies: gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A mitochondrial tRNA anticodon swap associated with a muscle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Lactate, pyruvate, and lactate-to-pyruvate ratio during exercise and recovery.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Search for characteristic structural features of mammalian mitochondrial tRNAs.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Mitochondrial DNA mutations and pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Disorders of mitochondrial protein synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Muscle pain, fatigue, and mitochondriopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.10.003

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.10.003

1 reference

11 December 2017

1 reference