Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH.

Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.

2.

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

Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M.

Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1.

3.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E.

Eur J Hum Genet. 2016 Mar;24(3):463-6. doi: 10.1038/ejhg.2015.141. Epub 2015 Jul 15.

4.

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R.

Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2.

PMID:
27102849
5.

Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.

Sevrioukova IF.

J Mol Biol. 2016 Sep 11;428(18):3650-65. doi: 10.1016/j.jmb.2016.05.004. Epub 2016 May 10.

PMID:
27178839
6.

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P.

Mitochondrion. 2015 Mar;21:12-8. doi: 10.1016/j.mito.2015.01.001. Epub 2015 Jan 10. Review.

PMID:
25583628
7.

Apoptosis-inducing factor: structure, function, and redox regulation.

Sevrioukova IF.

Antioxid Redox Signal. 2011 Jun 15;14(12):2545-79. doi: 10.1089/ars.2010.3445. Epub 2011 Mar 10. Review.

8.

The oxido-reductase activity of the apoptosis inducing factor: a promising pharmacological tool?

Ferreira P, Villanueva R, Cabon L, Susín SA, Medina M.

Curr Pharm Des. 2013;19(14):2628-36. Review.

PMID:
23116400
9.

Apoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2).

Elguindy MM, Nakamaru-Ogiso E.

J Biol Chem. 2015 Aug 21;290(34):20815-26. doi: 10.1074/jbc.M115.641498. Epub 2015 Jun 10.

10.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q.

J Med Genet. 2015 Aug;52(8):523-31. doi: 10.1136/jmedgenet-2014-102961. Epub 2015 May 18.

11.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560.

12.

AIF: not just an apoptosis-inducing factor.

Joza N, Pospisilik JA, Hangen E, Hanada T, Modjtahedi N, Penninger JM, Kroemer G.

Ann N Y Acad Sci. 2009 Aug;1171:2-11. doi: 10.1111/j.1749-6632.2009.04681.x. Review.

PMID:
19723031
13.

Loss of apoptosis-inducing factor critically affects MIA40 function.

Meyer K, Buettner S, Ghezzi D, Zeviani M, Bano D, Nicotera P.

Cell Death Dis. 2015 Jul 9;6:e1814. doi: 10.1038/cddis.2015.170.

14.

Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.

Delettre C, Yuste VJ, Moubarak RS, Bras M, Robert N, Susin SA.

J Biol Chem. 2006 Jul 7;281(27):18507-18. Epub 2006 Apr 27.

15.

Poly(ADP-ribose) polymerase (PARP)-1-independent apoptosis-inducing factor (AIF) release and cell death are induced by eleostearic acid and blocked by alpha-tocopherol and MEK inhibition.

Kondo K, Obitsu S, Ohta S, Matsunami K, Otsuka H, Teshima R.

J Biol Chem. 2010 Apr 23;285(17):13079-91. doi: 10.1074/jbc.M109.044206. Epub 2010 Feb 22.

16.

Life with or without AIF.

Hangen E, Blomgren K, Bénit P, Kroemer G, Modjtahedi N.

Trends Biochem Sci. 2010 May;35(5):278-87. doi: 10.1016/j.tibs.2009.12.008. Epub 2010 Feb 6. Review.

PMID:
20138767
17.

Redox-linked conformational dynamics in apoptosis-inducing factor.

Sevrioukova IF.

J Mol Biol. 2009 Jul 31;390(5):924-38. doi: 10.1016/j.jmb.2009.05.013. Epub 2009 May 15.

18.

The human host defense peptide LL-37 induces apoptosis in a calpain- and apoptosis-inducing factor-dependent manner involving Bax activity.

Mader JS, Mookherjee N, Hancock RE, Bleackley RC.

Mol Cancer Res. 2009 May;7(5):689-702. doi: 10.1158/1541-7786.MCR-08-0274. Epub 2009 May 12.

19.

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG.

Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8.

20.

Poly(ADP-ribose) (PAR) binding to apoptosis-inducing factor is critical for PAR polymerase-1-dependent cell death (parthanatos).

Wang Y, Kim NS, Haince JF, Kang HC, David KK, Andrabi SA, Poirier GG, Dawson VL, Dawson TM.

Sci Signal. 2011 Apr 5;4(167):ra20. doi: 10.1126/scisignal.2000902.

Supplemental Content

Support Center