These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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 11; 21():12-8. PubMed ID: 25583628 [Abstract] [Full Text] [Related]
3. Key Role of the Adenylate Moiety and Integrity of the Adenylate-Binding Site for the NAD(+)/H Binding to Mitochondrial Apoptosis-Inducing Factor. Sorrentino L, Calogero AM, Pandini V, Vanoni MA, Sevrioukova IF, Aliverti A. Biochemistry; 2015 Dec 01; 54(47):6996-7009. PubMed ID: 26535916 [Abstract] [Full Text] [Related]
5. 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 07; 91(6):1095-102. PubMed ID: 23217327 [Abstract] [Full Text] [Related]
6. Structural bases of the altered catalytic properties of a pathogenic variant of apoptosis inducing factor. Sorrentino L, Cossu F, Milani M, Aliverti A, Mastrangelo E. Biochem Biophys Res Commun; 2017 Aug 26; 490(3):1011-1017. PubMed ID: 28666871 [Abstract] [Full Text] [Related]
7. 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 09; 86(4):639-49. PubMed ID: 20362274 [Abstract] [Full Text] [Related]
8. AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization. Qiu Y, Wang H, Pan H, Guan J, Yan L, Fan M, Zhou H, Zhou X, Wu K, Jia Z, Zhuang Q, Lei Z, Li M, Ding X, Lin A, Fu Y, Zhang D, Wang Q, Yan Q. J Zhejiang Univ Sci B; 2023 Feb 15; 24(2):172-184. PubMed ID: 36751702 [Abstract] [Full Text] [Related]
9. 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 Feb 15; 19(14):2628-36. PubMed ID: 23116400 [Abstract] [Full Text] [Related]
10. 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):20815-20826. PubMed ID: 26063804 [Abstract] [Full Text] [Related]
11. Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer. Bano D, Prehn JHM. EBioMedicine; 2018 Apr 21; 30():29-37. PubMed ID: 29605508 [Abstract] [Full Text] [Related]
12. Redox- and Ligand Binding-Dependent Conformational Ensembles in the Human Apoptosis-Inducing Factor Regulate Its Pro-Life and Cell Death Functions. Villanueva R, Romero-Tamayo S, Laplaza R, Martínez-Olivan J, Velázquez-Campoy A, Sancho J, Ferreira P, Medina M. Antioxid Redox Signal; 2019 Jun 20; 30(18):2013-2029. PubMed ID: 30450916 [Abstract] [Full Text] [Related]
13. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Cold Spring Harb Mol Case Stud; 2021 Jun 20; 7(3):. PubMed ID: 34117073 [Abstract] [Full Text] [Related]
14. Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation. Lewis EM, Wilkinson AS, Davis NY, Horita DA, Wilkinson JC. Biochemistry; 2011 Dec 27; 50(51):11084-96. PubMed ID: 22103349 [Abstract] [Full Text] [Related]
15. Apoptosis-inducing factor: a matter of neuron life and death. Krantic S, Mechawar N, Reix S, Quirion R. Prog Neurobiol; 2007 Feb 27; 81(3):179-96. PubMed ID: 17267093 [Abstract] [Full Text] [Related]
16. 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 27; 24(3):463-6. PubMed ID: 26173962 [Abstract] [Full Text] [Related]
17. AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1. Shi T, Chen Z, Li J, Wang H, Wang Q. Hum Mol Genet; 2024 May 04; 33(10):905-918. PubMed ID: 38449065 [Abstract] [Full Text] [Related]