Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (Q28144145)

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scientific article (publication date: 11 February 2000)

Language	Label	Description	Also known as
English	Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	scientific article (publication date: 11 February 2000)

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scholarly article

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Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (English)

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based on heuristic

inferred from title

lactic acidosis

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based on heuristic

inferred from title

mitochondrial myopathy

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based on heuristic

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author name string

T Yasukawa

1

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T Suzuki

2

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T Ueda

3

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S Ohta

4

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K Watanabe

5

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language of work or name

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publication date

11 February 2000

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Journal of Biological Chemistry

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275

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6

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4251-7

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Mitochondrial DNA mutations and pathogenesis

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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

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Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.

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A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

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

1 reference

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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

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

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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

1 reference

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

1 reference

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

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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

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Higher-order structure of bovine mitochondrial tRNA(Phe) lacking the 'conserved' GG and T psi CG sequences as inferred by enzymatic and chemical probing.

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Effects of ethidium bromide treatment of mouse cells on expression and assembly of nuclear-coded subunits of complexes involved in the oxidative phosphorylation.

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Phy M: an RNase activity specific for U and A residues useful in RNA sequence analysis

1 reference

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21 January 2018

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

1 reference

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Compilation of tRNA sequences and sequences of tRNA genes

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Pathophysiology of the MELAS 3243 transition mutation

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The 'polysemous' codon--a codon with multiple amino acid assignment caused by dual specificity of tRNA identity

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Different pattern of codon recognition by mammalian mitochondrial tRNAs

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Novel features in the genetic code and codon reading patterns in Neurospora crassa mitochondria based on sequences of six mitochondrial tRNAs

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7-Methylguanosine at the anticodon wobble position of squid mitochondrial tRNA(Ser)GCU: molecular basis for assignment of AGA/AGG codons as serine in invertebrate mitochondria.

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Occurrence of unmodified adenine and uracil at the first position of anticodon in threonine tRNAs in Mycoplasma capricolum

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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

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Sequence and organization of the human mitochondrial genome

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A new method for identifying the amino acid attached to a particular RNA in the cell

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21 January 2018

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