Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? (Q33910255)

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

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

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

1 reference

Europe PubMed Central

30 July 2017

mitochondrial DNA

0 references

author name string

Moraes CT

1

1 reference

Europe PubMed Central

30 July 2017

Ciacci F

2

1 reference

Europe PubMed Central

30 July 2017

Bonilla E

3

1 reference

Europe PubMed Central

30 July 2017

Jansen C

4

1 reference

Europe PubMed Central

30 July 2017

Hirano M

5

1 reference

Europe PubMed Central

30 July 2017

Rao N

6

1 reference

Europe PubMed Central

30 July 2017

Lovelace RE

7

1 reference

Europe PubMed Central

30 July 2017

Rowland LP

8

1 reference

Europe PubMed Central

30 July 2017

Schon EA

9

1 reference

Europe PubMed Central

30 July 2017

DiMauro S

10

1 reference

Europe PubMed Central

30 July 2017

language of work or name

0 references

publication date

1 December 1993

1 reference

Europe PubMed Central

30 July 2017

Journal of Clinical Investigation

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Europe PubMed Central

30 July 2017

92

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Europe PubMed Central

30 July 2017

6

1 reference

Europe PubMed Central

30 July 2017

2906-2915

1 reference

Europe PubMed Central

30 July 2017

Pleiotrophic effects of point mutations in yeast tRNA(Asp) on the base modification pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Influence of tRNA tertiary structure and stability on aminoacylation by yeast aspartyl-tRNA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mitochondrial DNA and human evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Cytochrome c oxidase deficiency in Leigh syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Biogenesis of mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Detection of a specific mitochondrial DNA deletion in tissues of older humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Geographic variation in human mitochondrial DNA from Papua New Guinea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Replication and Transcription of Vertebrate Mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

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 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Diseases of the mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Disorders associated with depletion of mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

5 July 2018

Mitochondrial DNA deletions in inclusion body myositis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

29 October 2018

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

29 October 2018

Nucleotides that contribute to the identity of Escherichia coli tRNA(Phe).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

29 October 2018

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288494

29 October 2018

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical syndromes associated with ragged red fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8254046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116913

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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