(Q28294456)

Thomas J Nicholls

6

0 references

Joanna Rorbach

Joanna Rorbach

5

0 references

Enrico Baruffini

Enrico Baruffini

7

0 references

Michał Mińczuk

Michal Minczuk

18

0 references

Johannes A Mayr

Johannes A Mayr

19

0 references

Holger Prokisch

Holger Prokisch

20

0 references

Robert William Taylor

17

Robert W Taylor

0 references

Tobias B Haack

1

Tobias B Haack

0 references

Katharina Danhauser

9

Katharina Danhauser

0 references

Thomas Wieland

4

Thomas Wieland

0 references

Tim M Strom

15

Tim M Strom

0 references

Peter Freisinger

3

Peter Freisinger

0 references

Robert Kopajtich

2

Robert Kopajtich

0 references

Ileana Ferrero

14

Ileana Ferrero

0 references

Ralf A. Husain

11

Ralf A Husain

0 references

Jessica Schum

12

Jessica Schum

0 references

author name string

Anett Walther

8

0 references

Franz A Zimmermann

10

0 references

Helen Mundy

American Journal of Human Genetics

13

0 references

language of work or name

English

0 references

publication date

8 August 2013

0 references

published in

0 references

volume

93

0 references

issue

2

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page(s)

211-23

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cites work

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

RNA processing in human mitochondria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Sequence and organization of the human mitochondrial genome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

MutationTaster evaluates disease-causing potential of sequence alterations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

tRNA punctuation model of RNA processing in human mitochondria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Mitochondrial diseases: translation matters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

How do human cells react to the absence of mitochondrial DNA?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Mitochondrial tRNA 3' end metabolism and human disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Preferential selection of the 5'-terminal start codon on leaderless mRNAs by mammalian mitochondrial ribosomes

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

In vivo analysis of mtDNA replication defects in yeast

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

The Caenorhabditis elegans homolog of the putative prostate cancer susceptibility gene ELAC2, hoe-1, plays a role in germline proliferation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738821

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23849775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23849775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The missense mutations in the candidate prostate cancer gene ELAC2 do not alter enzymatic properties of its product

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23849775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.06.006

1 reference

287252

287252

1 reference

1 reference

1 reference