Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. (Q37018159)

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14 March 2020

title

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts (English)

1 reference

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14 March 2020

3

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14 March 2020

Martin Holcik

10

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14 March 2020

author name string

Urszula Liwak-Muir

1

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14 March 2020

Hapsatou Mamady

2

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14 March 2020

Quinlan Wylie

4

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14 March 2020

Skye McBride

5

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14 March 2020

Matthew Lines

6

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14 March 2020

Jean Michaud

7

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14 March 2020

Stephen D Baird

8

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14 March 2020

Pranesh K Chakraborty

9

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publication date

18 June 2016

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Orphanet Journal of Rare Diseases

14 March 2020

published in

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volume

11

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issue

1

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page(s)

79

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describes a project that uses

14 March 2020

ImageJ

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11 June 2022

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based on heuristic

inferred from PubMed Central ID database lookup

cites work

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

Mitochondrial fission, fusion, and stress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

NF45 functions as an IRES trans-acting factor that is required for translation of cIAP1 during the unfolded protein response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

CCA addition by tRNA nucleotidyltransferase: polymerization without translocation?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

Sequence and organization of the human mitochondrial genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

ROMO1 is an essential redox-dependent regulator of mitochondrial dynamics.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4912790

10.1186/S13023-016-0466-3

4 September 2018

Identifiers

DOI

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Dimensions Publication ID

14 March 2020

0 references

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14 March 2020

PubMed publication ID

27317422

1 reference