(Q36358437)

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An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

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scholarly article

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Europe PubMed Central

PMC publication ID

13 August 2017

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

phosphorylation

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author name string

Alexandre Janer

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Hana Antonicka

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Emilie Lalonde

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Tamiko Nishimura

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Florin Sasarman

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Garry K Brown

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Ruth M Brown

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Jacek Majewski

8

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Eric A Shoubridge

9

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Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

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publication date

27 September 2012

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

13 August 2017

91

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Europe PubMed Central

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13 August 2017

4

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Europe PubMed Central

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13 August 2017

737-743

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

RsfA (YbeB) proteins are conserved ribosomal silencing factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Monogenic mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

The structure of Sif2p, a WD repeat protein functioning in the SET3 corepressor complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Global analysis of protein localization in budding yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

MTG1 codes for a conserved protein required for mitochondrial translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

30 September 2017

Radioactive labeling of mitochondrial translation products in cultured cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

21 October 2018

Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484649

21 October 2018

Mitochondrial DNA and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23022098

12 December 2020

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10.1016/J.AJHG.2012.08.020

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Europe PubMed Central

PMC publication ID

13 August 2017

release_2cdme4lbunb2xdl7wq3qyapq3u

1 reference

https://api.fatcat.wiki/v0/release/2cdme4lbunb2xdl7wq3qyapq3u

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

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Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

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Europe PubMed Central

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13 August 2017

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