DOI: 10.1016/j.ajhg.2010.03.002. Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

10.1016/j.ajhg.2010.03.002

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Ghezzi, D., Sevrioukova, I., Invernizzi, F., Lamperti, C., Mora, M., DâAdamo, P., Novara, F., Zuffardi, O., Uziel, G., & Zeviani, M. (2010). Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor. The American Journal of Human Genetics, 86(4), 639â649.

Authors 10

Daniele Ghezzi (first)
Irina Sevrioukova (additional)
Federica Invernizzi (additional)
Costanza Lamperti (additional)
Marina Mora (additional)
Pio D'Adamo (additional)
Francesca Novara (additional)
Orsetta Zuffardi (additional)
Graziella Uziel (additional)
Massimo Zeviani (additional)

References 28 Referenced 196

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10.1152/ajpcell.00420.2001 / Am. J. Physiol. Cell Physiol. / Human Na+/H+ exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria by Brett (2002)
10.1038/17135 / Nature / Molecular characterization of mitochondrial apoptosis-inducing factor by Susin (1999)
10.1083/jcb.200207071 / J. Cell Biol. / Mitochondrial release of apoptosis-inducing factor occurs downstream of cytochrome c release in response to several proapoptotic stimuli by Arnoult (2002)
10.1038/sj.emboj.7600614 / EMBO J. / Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space by Otera (2005)
10.1042/AN20090046 / ASN Neuro. / Outer mitochondrial membrane localization of apoptosis-inducing factor: Mechanistic implications for release by Yu (2009)
10.1038/sj.cdd.4401687 / Cell Death Differ. / Cysteine protease inhibition prevents mitochondrial apoptosis-inducing factor (AIF) release by Yuste (2005)
10.1074/jbc.M413269200 / J. Biol. Chem. / Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria by Polster (2005)
10.1126/science.1076194 / Science / Mechanisms of AIF-mediated apoptotic DNA degradation in Caenorhabditis elegans by Wang (2002)
10.1196/annals.1427.014 / Ann. N Y Acad. Sci. / Mitochondrial and nuclear cross talk in cell death: Parthanatos by Andrabi (2008)
10.1038/nsb793 / Nat. Struct. Biol. / The crystal structure of the mouse apoptosis-inducing factor AIF by Maté (2002)
10.1038/nsb836 / Nat. Struct. Biol. / DNA binding is required for the apoptogenic action of apoptosis inducing factor by Ye (2002)
10.1016/j.jmb.2009.05.013 / J. Mol. Biol. / Redox-linked conformational dynamics in apoptosis-inducing factor by Sevrioukova (2009)
10.1074/jbc.M709147200 / J. Biol. Chem. / Redox-dependent changes in molecular properties of mitochondrial apoptosis-inducing factor by Churbanova (2008)
10.1038/nrm1697 / Nat. Rev. Mol. Cell Biol. / Mitochondrial fission in apoptosis by Youle (2005)
10.1016/j.expneurol.2009.03.020 / Exp. Neurol. / Poly(ADP-ribose) signals to mitochondrial AIF: A key event in parthanatos by Wang (2009)
{'key': '10.1016/j.ajhg.2010.03.002_bib22', 'first-page': '1229', 'article-title': 'Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation', 'volume': '51', 'author': 'Allen', 'year': '1992', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation by Allen (1992)
10.1038/nature01034 / Nature / The harlequin mouse mutation down-regulates apoptosis-inducing factor by Klein (2002)
10.1038/sj.emboj.7600461 / EMBO J. / AIF deficiency compromises oxidative phosphorylation by Vahsen (2004)
10.1038/sj.emboj.7601276 / EMBO J. / Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis by Cheung (2006)
10.1128/MCB.25.23.10261-10272.2005 / Mol. Cell. Biol. / Muscle-specific loss of Apoptosis-Inducing Factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy by Joza (2005)
10.1093/brain/awm335 / Brain / OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion by Zanna (2008)
10.1038/sj.emboj.7600746 / EMBO J. / AIF suppresses chemical stress-induced apoptosis and maintains the transformed state of tumor cells by Urbano (2005)

Dates

Type	When
Created	15 years, 4 months ago (April 2, 2010, 4:25 a.m.)
Deposited	6 years, 8 months ago (Dec. 11, 2018, 11:50 p.m.)
Indexed	3 weeks, 2 days ago (Aug. 6, 2025, 8:21 a.m.)
Issued	15 years, 4 months ago (April 1, 2010)
Published	15 years, 4 months ago (April 1, 2010)
Published Print	15 years, 4 months ago (April 1, 2010)

Funders 0

None

BibTeX

@article{Ghezzi_2010, title={Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor}, volume={86}, ISSN={0002-9297}, url={http://dx.doi.org/10.1016/j.ajhg.2010.03.002}, DOI={10.1016/j.ajhg.2010.03.002}, number={4}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Ghezzi, Daniele and Sevrioukova, Irina and Invernizzi, Federica and Lamperti, Costanza and Mora, Marina and D’Adamo, Pio and Novara, Francesca and Zuffardi, Orsetta and Uziel, Graziella and Zeviani, Massimo}, year={2010}, month=apr, pages={639–649} }

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