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

29 July 2017

title

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

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mitochondrial encephalomyopathy

29 July 2017

main subject

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Francesca Novara

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Federica Invernizzi

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Daniele Ghezzi

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Marina Mora

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Orsetta Zuffardi

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Massimo Zeviani

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29 July 2017

Costanza Lamperti

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29 July 2017

Graziella Uziel

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29 July 2017

Irina Sevrioukova

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29 July 2017

Pio D'Adamo

series ordinal

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29 July 2017

language of work or name

English

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publication date

1 April 2010

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American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

639-649

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

29 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=2850437

AIF: not just an apoptosis-inducing factor

4 July 2018

1 reference

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

Redox-Linked Conformational Dynamics in Apoptosis-Inducing Factor

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

Batteries not included: diagnosis and management of mitochondrial disease.

4 July 2018

1 reference

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

Mitochondrial and nuclear cross talk in cell death: parthanatos

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

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

4 July 2018

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

1 reference

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

Apoptosis-inducing factor: vital and lethal

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

Mitochondrial fission in apoptosis

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

AIF deficiency compromises oxidative phosphorylation

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

The harlequin mouse mutation downregulates apoptosis-inducing factor

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

The crystal structure of the mouse apoptosis-inducing factor AIF

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

Molecular characterization of mitochondrial apoptosis-inducing factor

4 July 2018

1 reference

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

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

4 July 2018

1 reference

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

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

4 July 2018

1 reference

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

Redox-dependent changes in molecular properties of mitochondrial apoptosis-inducing factor

30 October 2018

1 reference

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

Cysteine protease inhibition prevents mitochondrial apoptosis-inducing factor (AIF) release

30 October 2018

1 reference

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

Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria

30 October 2018

1 reference

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

Mechanisms of AIF-mediated apoptotic DNA degradation in Caenorhabditis elegans

30 October 2018

1 reference

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

10.1016/J.AJHG.2010.03.002

30 October 2018

Identifiers

DOI

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29 July 2017

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29 July 2017

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