Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy (Q28118657)

4 January 2017

title

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy (English)

1 reference

Inorganic pyrophosphatase 2

4 January 2017

1 reference

1 reference

regulation of mitochondrial membrane potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523598%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

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12 June 2020

François Godard

2 references

4 January 2017

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12 June 2020

Gianina Ravenscroft

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4 January 2017

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12 June 2020

Myriam Oufadem

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4 January 2017

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12 June 2020

Christelle Vasnier

2 references

4 January 2017

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12 June 2020

Caroline Rambaud

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4 January 2017

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12 June 2020

Patrick Nitschke

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4 January 2017

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12 June 2020

Cécile Masson

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4 January 2017

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12 June 2020

Stéphane Dauger

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4 January 2017

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12 June 2020

Cheryl Longman

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4 January 2017

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12 June 2020

Béatrice Kugener

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4 January 2017

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12 June 2020

Damien Bonnet

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4 January 2017

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Patrice Bouvagnet

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4 January 2017

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12 June 2020

Sylvie Di Filippo

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4 January 2017

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12 June 2020

Alain Dautant

2 references

4 January 2017

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12 June 2020

Jean-Paul di Rago

2 references

4 January 2017

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12 June 2020

Agnès Delahodde

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4 January 2017

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12 June 2020

Christine Bole-Feysot

1 reference

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12 June 2020

language of work or name

English

0 references

publication date

1 September 2016

1 reference

American Journal of Human Genetics

4 January 2017

published in

2 references

4 January 2017

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12 June 2020

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4 January 2017

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12 June 2020

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4 January 2017

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page(s)

666-673

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010643

Yeast PPA2 gene encodes a mitochondrial inorganic pyrophosphatase that is essential for mitochondrial function

20 March 2017

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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

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7 April 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Inorganic pyrophosphate in mitochondrial metabolism

29 September 2017

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19 Preparation of yeast mitochondria (Saccharomyces cerevisiae) with good P/O and respiratory control ratios

29 September 2017

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Rhodamine 123 as a probe of transmembrane potential in isolated rat-liver mitochondria: spectral and metabolic properties

29 September 2017

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2 June 2018

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F1-catalysed ATP hydrolysis is required for mitochondrial biogenesis in Saccharomyces cerevisiae growing under conditions where it cannot respire

27 November 2018

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27 November 2018

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Pyrophosphate metabolism in the perfused heart and isolated heart mitochondria and its role in regulation of mitochondrial function by calcium

27 November 2018

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Evolutionary aspects of inorganic pyrophosphatase

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27523598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The absence of the mitochondrial ATP synthase delta subunit promotes a slow growth phenotype of rho- yeast cells by a lack of assembly of the catalytic sector F1

1 reference

https://pubmed.ncbi.nlm.nih.gov/27523598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intramitochondrial ATP and Cell Functions: Yeast Cells Depleted of Intramitochondrial ATP Lose the Ability to Grow and Multiply

1 reference

https://pubmed.ncbi.nlm.nih.gov/27523598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.06.021

1 reference

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12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523598%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523598%20AND%20SRC:MED&resulttype=core&format=json