(Q45979469)

18 December 2017

title

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. (English)

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18 December 2017

author

Hanns Lochmüller

7

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18 December 2017

Hana Antonicka

object named as

Hana Antonicka

2

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Rita Horvath

object named as

Rita Horvath

10

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author name string

Woranontee Weraarpachai

1

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18 December 2017

Florin Sasarman

3

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18 December 2017

Jürgen Seeger

4

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18 December 2017

Bertold Schrank

5

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18 December 2017

Jill E Kolesar

6

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18 December 2017

Mario Chevrette

8

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18 December 2017

Brett A Kaufman

9

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18 December 2017

Eric A Shoubridge

11

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18 December 2017

language of work or name

English

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publication date

7 June 2009

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18 December 2017

published in

Nature Genetics

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18 December 2017

volume

41

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18 December 2017

issue

7

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18 December 2017

page(s)

833-837

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18 December 2017

https://scigraph.springernature.com/pub.10.1038/ng.390

exact match

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cites work

Mitochondrial DNA mutations in human disease

1 reference

Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae.

21 January 2018

1 reference

Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs

21 January 2018

1 reference

Crystal structure of conserved hypothetical protein Aq1575 from Aquifex aeolicus

21 January 2018

1 reference

Exploring the functional landscape of gene expression: directed search of large microarray compendia

21 January 2018

1 reference

Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process

21 January 2018

1 reference

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

Genome-wide analysis of Arabidopsis pentatricopeptide repeat proteins reveals their essential role in organelle biogenesis

21 January 2018

1 reference

Pentatricopeptide repeat (PPR) proteins as sequence-specificity factors in post-transcriptional processes in organelles

21 January 2018

1 reference

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

21 January 2018

1 reference

The YebC family protein PA0964 negatively regulates the Pseudomonas aeruginosa quinolone signal system and pyocyanin production

21 January 2018

1 reference

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

21 January 2018

1 reference

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

21 January 2018

1 reference

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.

21 January 2018

1 reference

Chromosome 18 suppresses tumorigenic properties of human prostate cancer cells

21 January 2018

1 reference

Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies

21 January 2018

1 reference

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

21 January 2018

1 reference

A rapid assay for mitochondrial DNA damage and respiratory chain inhibition in the yeast Saccharomyces cerevisiae

21 January 2018

1 reference

Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

21 January 2018

1 reference

The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures

21 January 2018

1 reference

Ab initio modeling of small proteins by iterative TASSER simulations

21 January 2018

1 reference

I-TASSER server for protein 3D structure prediction

21 January 2018

1 reference

Template-based modeling and free modeling by I-TASSER in CASP7.

21 January 2018

1 reference

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

21 January 2018

1 reference

Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19503089

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19503089

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.390

1 reference

18 December 2017

Dimensions Publication ID

1041039771

0 references

1 reference

18 December 2017