A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. (Q48056181)

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12 February 2020

title

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations (English)

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12 February 2020

1

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12 February 2020

Charlotte L Alston

series ordinal

4

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12 February 2020

Robert McFarland

series ordinal

7

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12 February 2020

Robert William Taylor

series ordinal

5

object named as

Robert W Taylor

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12 February 2020

3

Emma L Blakely

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12 February 2020

6

Joanna L Elson

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12 February 2020

2

Mazhor Al-Dosary

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12 February 2020

publication date

19 September 2011

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12 February 2020

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12 February 2020

volume

32

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12 February 2020

issue

11

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12 February 2020

page(s)

1319-1325

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Sequence and organization of the human mitochondrial genome

12 February 2020

cites work

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Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

21 January 2018

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Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches

21 January 2018

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Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

21 January 2018

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Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

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Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

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Mitochondrial DNA mutations in human disease.

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Maternal inheritance of human mitochondrial DNA

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

21 January 2018

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Search for characteristic structural features of mammalian mitochondrial tRNAs.

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mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

21 January 2018

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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

21 January 2018

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Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

21 January 2018

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Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy

21 January 2018

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Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

21 January 2018

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Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

21 January 2018

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Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures

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An enhanced MITOMAP with a global mtDNA mutational phylogeny

21 January 2018

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A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

21 January 2018

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Mitochondrial DNA mutations and pathogenesis

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Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

21 January 2018

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Mitochondrial DNA mutations in human colonic crypt stem cells

21 January 2018

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A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

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Mitochondrial DNA mutations and human disease

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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

21 January 2018

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mtDNA tree Build 17 (18 Feb 2016)

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Diseases of the mitochondrial DNA.

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Mitochondrial tRNA mutations and disease

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Mitochondrial encephalomyopathies

21 January 2018

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7 January 2021

Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys

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7 January 2021

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease

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7 January 2021

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

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7 January 2021

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7 January 2021