(Q34250205)

31 July 2017

title

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome (English)

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31 July 2017

17

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7

Andrea Superti-Furga

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Eleonora Lamantea

Eleonora Lamantea

12

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Janbernd Kirschner

Janbernd Kirschner

8

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Johannes A Mayr

Johannes A Mayr

1

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Matthias R Baumgartner

Matthias R Baumgartner

10

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Holger Prokisch

Holger Prokisch

19

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Richard J Rodenburg

Richard J Rodenburg

14

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Massimo Zeviani

13

Massimo Zeviani

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31 July 2017

11

Isabella Moroni

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ORCID Public Data File 2021

31 July 2017

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Tobias B Haack

2

Tobias B Haack

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31 July 2017

5

Thomas Wieland

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31 July 2017

16

Tim M Strom

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31 July 2017

18

Wolfgang Sperl

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31 July 2017

6

Birgit Haberberger

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31 July 2017

Elisabeth Graf

3

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31 July 2017

Franz A Zimmermann

4

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31 July 2017

Beat Steinmann

9

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31 July 2017

Jan Smeitink

15

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31 July 2017

language of work or name

English

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publication date

26 January 2012

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

90

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31 July 2017

issue

2

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31 July 2017

page(s)

314-320

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DGK1-encoded diacylglycerol kinase activity is required for phospholipid synthesis during growth resumption from stationary phase in Saccharomyces cerevisiae

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Lysophosphatidic acid signaling in airway epithelium: role in airway inflammation and remodeling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

SplicePort--an interactive splice-site analysis tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

A novel X-linked gene, G4.5. is responsible for Barth syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Association of phosphatidic acid with the bovine mitochondrial ADP/ATP carrier

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

The mitochondrial proteome database: MitoP2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Mitochondrial diacylglycerol initiates protein-kinase D1-mediated ROS signaling

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276657

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

28 October 2018

1 reference

12 December 2020

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

1 reference

12 December 2020

Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy

1 reference

12 December 2020

[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]

1 reference

12 December 2020

Congenital cardiomyopathy and cataracts with lactic acidosis

1 reference

12 December 2020

10.1016/J.AJHG.2011.12.005

Identifiers

DOI

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31 July 2017

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31 July 2017

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