(Q77323234)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9744809%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

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

1 reference

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4 December 2019

1

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4 December 2019

author name string

R M Karwan

series ordinal

2

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4 December 2019

publication date

1 August 1998

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4 December 2019

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4 December 2019

volume

433

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9744809%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

issue

3

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4 December 2019

page(s)

269-274

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The development of mitochondrial medicine

4 December 2019

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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

7 January 2021

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Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function

7 January 2021

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

7 January 2021

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In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

7 January 2021

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Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing

7 January 2021

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

7 January 2021

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Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

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7 January 2021

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7 January 2021

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Characterization of human mitochondrial RNase P: novel aspects in tRNA processing

7 January 2021

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Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

7 January 2021

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Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

7 January 2021

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A mitochondrial tRNA anticodon swap associated with a muscle disease

7 January 2021

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Two helices plus a linker: a small model substrate for eukaryotic RNase P.

7 January 2021

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Role of the D arm and the anticodon arm in tRNA recognition by eubacterial and eukaryotic RNase P enzymes

7 January 2021

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The processing of wild type and mutant forms of rat nuclear pre-tRNA(Lys) by the homologous RNase P.

7 January 2021

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Processing of human mitochondrial tRNA(Ser(AGY))GCU: a novel pathway in tRNA biosynthesis

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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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

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Heavy traffic at a dual-purpose human mitochondrial tRNA gene

7 January 2021

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

7 January 2021

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A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

7 January 2021

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

7 January 2021

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A new point mutation associated with mitochondrial encephalomyopathy

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

7 January 2021

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

7 January 2021

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Compilation of tRNA sequences and sequences of tRNA genes

7 January 2021

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10.1016/S0014-5793(98)00928-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9744809%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference