Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

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P248

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Item

http://www.wikidata.org/entity/Q28118605

description

2016 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

artículu científicu espublizáu en 2016

@ast

im September 2016 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2016/09/01)

@sk

vědecký článek publikovaný v roce 2016

@cs

wetenschappelijk artikel (gepubliceerd op 2016/09/01)

@nl

наукова стаття, опублікована у вересні 2016

@uk

مقالة علمية (نشرت في سبتمبر 2016)

@ar

name

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@ast

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@en

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@nl

type

Item

label

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@ast

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@en

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@nl

prefLabel

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@ast

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@en

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@nl

P1154

2-s2.0-84981719725

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P1433

American Journal of Human Genetics

P1476

Sudden Cardiac Death Due to De ...... Inorganic Pyrophosphatase PPA2

@en

P2093

Angus Dobbie

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Bader Alhaddad

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Caroline Gannon

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Charlotte L Alston

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Chris M Florkowski

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Colin A Johnson

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E Regula Baumgartner

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Grainne Connolly

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Hannah Kennedy

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Howard Potter

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P2860

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

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

Acetyl-CoA synthetase 2, a mitochondrial matrix enzyme involved in the oxidation of acetate

Enhancement of the rate of pyrophosphate hydrolysis by nonenzymatic catalysts and by inorganic pyrophosphatase.

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.

Inorganic pyrophosphatase defects lead to cell cycle arrest and autophagic cell death through NAD+ depletion in fermenting yeast.

Mitochondrial diseases and epilepsy.

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

P304

674-682

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P31

scholarly article

P356

10.1016/J.AJHG.2016.06.027

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

P5530

10408881

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P577

2016-08-11T00:00:00Z

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P6179

1003055534

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P6366

2514744505

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P6409

81125992

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P698

27523597

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P921

Inorganic pyrophosphatase 2

mitochondrion

inorganic pyrophosphatase activity

P932

5011043

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P953

105431