(Q46697083)

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Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy (English)

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

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mitochondrial myopathy

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based on heuristic

inferred from title

Pasquale Scarcia

8

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Eleonora Lamantea

10

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Antonella Santoro

object named as

Antonella Santoro

7

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object named as

Tiziana Lodi

4

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Massimo Zeviani

12

object named as

Massimo Zeviani

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

author name string

Luigi Palmieri

1

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Simona Alberio

2

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Isabella Pisano

3

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Mija Meznaric-Petrusa

5

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Janez Zidar

6

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Flavia Fontanesi

9

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Iliana Ferrero

11

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

publication date

9 September 2005

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

14

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

20

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

3079-3088

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Molecular aspects of the adenine nucleotide carrier from mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

The mitochondrial ADP/ATP carrier: structural, physiological and pathological aspects.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Adenine nucleotide translocase-1, a component of the permeability transition pore, can dominantly induce apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Mitochondrial disease in mouse results in increased oxidative stress

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Reconstitution of adenine nucleotide transport from beef heart mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Abundant bacterial expression and reconstitution of an intrinsic membrane-transport protein from bovine mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

A family of low and high copy replicative, integrative and single-strandedS. cerevisiae/E. coli shuttle vectors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Sal1p, a calcium-dependent carrier protein that suppresses an essential cellular function associated With the Aac2 isoform of ADP/ATP translocase in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

A transmembrane helix dimer: structure and implications

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Sequence motifs, polar interactions and conformational changes in helical membrane proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

The dynamic dimerization of the yeast ADP/ATP carrier in the inner mitochondrial membrane is affected by conserved cysteine residues

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

The phosphate carrier from yeast mitochondria. Dimerization is a prerequisite for function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Mitochondrial disease: mutations and mechanisms.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Oxidative DNA damage causes mitochondrial genomic instability in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Expression of the bovine heart mitochondrial ADP/ATP carrier in yeast mitochondria: significantly enhanced expression by replacement of the N-terminal region of the bovine carrier by the corresponding regions of the yeast carriers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Getting started with yeast

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI341

21 January 2018

Identifiers

10.1093/HMG/DDI341

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16155110

ResearchGate publication ID

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