(Q40334958)

English

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

scientific article published on March 1994

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy (English)

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Valeria Tiranti

2

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

author name string

Mariotti C

1

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Carrara F

3

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Dallapiccola B

4

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

DiDonato S

5

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Zeviani M

6

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

language of work or name

0 references

publication date

1 March 1994

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

93

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

1102-1107

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

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=294050

22 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

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=294050

22 September 2017

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=294050

22 September 2017

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=294050

22 September 2017

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=294050

22 September 2017

Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

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=294050

22 September 2017

A new program for investigating adult human skeletal muscle grown aneurally in tissue culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

22 September 2017

The sequence of human mtDNA: the question of errors versus polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294050

15 June 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117061

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 September 2017

ResearchGate publication ID

0 references

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