Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency (Q36365701)

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English	Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency	scientific article

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scholarly article

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Europe PubMed Central

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13 August 2017

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Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency (English)

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Europe PubMed Central

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13 August 2017

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Patrick Nitschké

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Patrick Nitschke

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11

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Arnold Munnich

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13 August 2017

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Agnès Rötig

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Valérie Serre

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13 August 2017

Pascale de Lonlay

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Pascale De Lonlay

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13 August 2017

Nathalie Boddaert

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Nathalie Boddaert

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13 August 2017

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Vanessa Vedrenne

1

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13 August 2017

Ali Gowher

2

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13 August 2017

Patrick Nitschke

4

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13 August 2017

Cecilia Altuzarra

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13 August 2017

Anne-Marie Mager-Heckel

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13 August 2017

Florence Chretien

9

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13 August 2017

Nina Entelis

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13 August 2017

Ivan Tarassov

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publication date

18 October 2012

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American Journal of Human Genetics

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13 August 2017

91

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13 August 2017

5

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13 August 2017

912-918

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13 August 2017

Transfer RNA travels from the cytoplasm to organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Nuclear outsourcing of RNA interference components to human mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Biological significance of 5S rRNA import into human mitochondria: role of ribosomal protein MRP-L18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

PNPASE regulates RNA import into mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Genetic bases of mitochondrial respiratory chain disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Acute infantile liver failure due to mutations in the TRMU gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Mammalian mitochondria have the innate ability to import tRNAs by a mechanism distinct from protein import

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Recent advances in tRNA mitochondrial import

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Analysis of the human polynucleotide phosphorylase (PNPase) reveals differences in RNA binding and response to phosphate compared to its bacterial and chloroplast counterparts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

The TCL1 oncoprotein binds the RNase PH domains of the PNPase exoribonuclease without affecting its RNA degrading activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Blue Native electrophoresis to study mitochondrial and other protein complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Epidemiology and treatment of mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

30 September 2017

A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

28 June 2018

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

22 September 2018

5 S rRNA and tRNA import into human mitochondria. Comparison of in vitro requirements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

21 October 2018

Human Mitochondrial mRNAs Are Stabilized with Polyadenylation Regulated by Mitochondria-specific Poly(A) Polymerase and Polynucleotide Phosphorylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487136

5 December 2018

Zen and the art of mitochondrial DNA maintenance

1 reference

https://pubmed.ncbi.nlm.nih.gov/23084291

12 December 2020

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10.1016/J.AJHG.2012.09.001

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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