Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (Q33772997)

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Language	Label	Description	Also known as
English	Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Francesca Novara

object named as

Francesca Novara

7

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Federica Invernizzi

object named as

Federica Invernizzi

3

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object named as

Daniele Ghezzi

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author name string

Irina Sevrioukova

2

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Europe PubMed Central

PubMed publication ID

29 July 2017

Costanza Lamperti

4

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Europe PubMed Central

PubMed publication ID

29 July 2017

Marina Mora

5

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Europe PubMed Central

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29 July 2017

Pio D'Adamo

6

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Europe PubMed Central

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29 July 2017

Orsetta Zuffardi

8

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Europe PubMed Central

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29 July 2017

Graziella Uziel

9

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Europe PubMed Central

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29 July 2017

Massimo Zeviani

10

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29 July 2017

publication date

1 April 2010

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29 July 2017

American Journal of Human Genetics

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29 July 2017

86

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29 July 2017

4

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29 July 2017

639-649

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Europe PubMed Central

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29 July 2017

Outer mitochondrial membrane localization of apoptosis-inducing factor: mechanistic implications for release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

AIF: not just an apoptosis-inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Redox-Linked Conformational Dynamics in Apoptosis-Inducing Factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Poly(ADP-ribose) signals to mitochondrial AIF: a key event in parthanatos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Batteries not included: diagnosis and management of mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Mitochondrial and nuclear cross talk in cell death: parthanatos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Eclipsed distribution: a phenomenon of dual targeting of protein and its significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Mitochondrial disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Apoptosis-inducing factor: vital and lethal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Mitochondrial fission in apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

AIF suppresses chemical stress-induced apoptosis and maintains the transformed state of tumor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

AIF deficiency compromises oxidative phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Mitochondrial release of apoptosis-inducing factor occurs downstream of cytochrome c release in response to several proapoptotic stimuli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

The harlequin mouse mutation downregulates apoptosis-inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

DNA binding is required for the apoptogenic action of apoptosis inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

The crystal structure of the mouse apoptosis-inducing factor AIF

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Molecular characterization of mitochondrial apoptosis-inducing factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850437

4 July 2018

Identifiers

10.1016/J.AJHG.2010.03.002

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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