Gene Symbol: Aifm1
Description: apoptosis-inducing factor, mitochondrion-associated 1
Alias: AIF, AIFsh2, Pdcd8, apoptosis-inducing factor 1, mitochondrial, harlequin, programmed cell death protein 8
Species: mouse
Products:     Aifm1

Top Publications

  1. Brown D, Yu B, Joza N, Benit P, Meneses J, Firpo M, et al. Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal. Proc Natl Acad Sci U S A. 2006;103:9918-23 pubmed
    Apoptosis-inducing factor (AIF) is an evolutionarily conserved, ubiquitously expressed flavoprotein with NADH oxidase activity that is normally confined to mitochondria...
  2. Ishimura R, Martin G, Ackerman S. Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects. J Neurosci. 2008;28:4938-48 pubmed publisher
    ..Previously, we demonstrated that adult harlequin (Hq) mutant mice, which have an 80% reduction in the mitochondrial protein apoptosis-inducing factor (AIF), ..
  3. Sevrioukova I. Redox-linked conformational dynamics in apoptosis-inducing factor. J Mol Biol. 2009;390:924-38 pubmed publisher
    Apoptosis-inducing factor (AIF) is a bifunctional mitochondrial flavoprotein critical for energy metabolism and induction of caspase-independent apoptosis, whose exact role in normal mitochondria remains unknown...
  4. Srivastava S, Banerjee H, Chaudhry A, Khare A, Sarin A, George A, et al. Apoptosis-inducing factor regulates death in peripheral T cells. J Immunol. 2007;179:797-803 pubmed
    ..The harlequin (Hq) mouse strain carries an aif locus modification causing reduced Aif expression...
  5. van Empel V, Bertrand A, van der Nagel R, Kostin S, Doevendans P, Crijns H, et al. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res. 2005;96:e92-e101 pubmed
    ..role of AIF in myocardial apoptotic processes, we examined cardiomyocytes from an AIF-deficient mouse mutant, Harlequin (Hq). Hq mutant cardiomyocytes demonstrated increased sensitivity to H2O2-induced cell death...
  6. Maté M, Ortiz Lombardia M, Boitel B, Haouz A, Tello D, Susin S, et al. The crystal structure of the mouse apoptosis-inducing factor AIF. Nat Struct Biol. 2002;9:442-6 pubmed
    ..Another important protein is apoptosis-inducing factor (AIF), a flavoprotein that can stimulate a caspase-independent cell-death pathway required for early embryonic ..
  7. Slemmer J, Zhu C, Landshamer S, Trabold R, Grohm J, Ardeshiri A, et al. Causal role of apoptosis-inducing factor for neuronal cell death following traumatic brain injury. Am J Pathol. 2008;173:1795-805 pubmed publisher
    ..reduced stretch-induced neuronal cell death by 67%, a finding corroborated in vivo using AIF-deficient harlequin mutant mice, where secondary contusion expansion was significantly reduced by 44%...
  8. Loeffler M, Daugas E, Susin S, Zamzami N, Metivier D, Nieminen A, et al. Dominant cell death induction by extramitochondrially targeted apoptosis-inducing factor. FASEB J. 2001;15:758-67 pubmed
    The complete AIF cDNA comprising the amino-terminal mitochondrial localization sequence (MLS) and the oxidoreductase domain has been fused in its carboxyl terminus to enhanced green fluorescent protein (GFP), thereby engineering an AIF-..
  9. Klein J, Longo Guess C, Rossmann M, Seburn K, Hurd R, Frankel W, et al. The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature. 2002;419:367-74 pubmed
    b>Harlequin (Hq) mutant mice have progressive degeneration of terminally differentiated cerebellar and retinal neurons...

More Information


  1. Artus C, Boujrad H, Bouharrour A, Brunelle M, Hoos S, Yuste V, et al. AIF promotes chromatinolysis and caspase-independent programmed necrosis by interacting with histone H2AX. EMBO J. 2010;29:1585-99 pubmed publisher
    ..alkylating agents, such as MNNG, is a caspase-independent mode of cell death mediated by apoptosis-inducing factor (AIF)...
  2. Polster B, Basañez G, Etxebarria A, Hardwick J, Nicholls D. Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria. J Biol Chem. 2005;280:6447-54 pubmed
    The translocation of apoptosis-inducing factor (AIF) from mitochondria to the nucleus has been implicated in the mechanism of glutamate excitotoxicity in cortical neurons and has been observed in vivo following acute rodent brain ..
  3. Oppenheim R, Blomgren K, Ethell D, Koike M, Komatsu M, Prevette D, et al. Developing postmitotic mammalian neurons in vivo lacking Apaf-1 undergo programmed cell death by a caspase-independent, nonapoptotic pathway involving autophagy. J Neurosci. 2008;28:1490-7 pubmed publisher
    ..the possible role of another caspase-independent type of neuronal PCD involving the apoptosis-inducing factor (AIF). Mice deficient in AIF also exhibit quantitatively normal PCD of postmitotic neurons after caspase inhibition...
  4. Benit P, Goncalves S, Dassa E, Briere J, Rustin P. The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS ONE. 2008;3:e3208 pubmed publisher
    ..Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the ..
  5. Delettre C, Yuste V, Moubarak R, Bras M, Robert N, Susin S. Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity. J Biol Chem. 2006;281:18507-18 pubmed
    ..Here, we report the cloning and the biochemical characterization of a new isoform named AIF short 2 (AIFsh2). AIFsh2 transcript includes a previously unknown exon placed between exons 9 and 10 of AIF...
  6. Joza N, Susin S, Daugas E, Stanford W, Cho S, Li C, et al. Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death. Nature. 2001;410:549-54 pubmed
    ..We have previously cloned a molecule associated with programmed cell death called apoptosis-inducing factor (AIF). Like cytochrome c, AIF is localized to mitochondria and released in response to death stimuli...
  7. Chinta S, Rane A, Yadava N, Andersen J, Nicholls D, Polster B. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med. 2009;46:939-47 pubmed
    Apoptosis-inducing factor (AIF)-deficient harlequin (Hq) mice undergo neurodegeneration associated with a 40-50% reduction in complex I level and activity...
  8. Perier C, Bove J, Dehay B, Jackson Lewis V, Rabinovitch P, Przedborski S, et al. Apoptosis-inducing factor deficiency sensitizes dopaminergic neurons to parkinsonian neurotoxins. Ann Neurol. 2010;68:184-92 pubmed publisher
    ..We used AIF-deficient harlequin (Hq) mice, which exhibit structural deficits in assembled complex I, to determine whether primary complex I ..
  9. Moubarak R, Yuste V, Artus C, Bouharrour A, Greer P, Menissier de Murcia J, et al. Sequential activation of poly(ADP-ribose) polymerase 1, calpains, and Bax is essential in apoptosis-inducing factor-mediated programmed necrosis. Mol Cell Biol. 2007;27:4844-62 pubmed
    ..type of programmed cell death through the poly(ADP-ribose) polymerases (PARP) and apoptosis-inducing factor (AIF)...
  10. Matsumori Y, Hong S, Aoyama K, Fan Y, Kayama T, Sheldon R, et al. Hsp70 overexpression sequesters AIF and reduces neonatal hypoxic/ischemic brain injury. J Cereb Blood Flow Metab. 2005;25:899-910 pubmed
    ..c, but not the second mitochondria-derived activator of caspase (Smac)/DIABLO and apoptosis-inducing factor (AIF), from mitochondria into cytosol was significantly reduced in Tg 24 h after H/I compared with Wt mice...
  11. Joza N, Oudit G, Brown D, Benit P, Kassiri Z, Vahsen N, et al. Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy. Mol Cell Biol. 2005;25:10261-72 pubmed
    ..Recently, we showed that apoptosis-inducing factor (AIF), a mitochondrial protein implicated in programmed cell death, plays a role in mitochondrial respiration...
  12. Schulthess F, Katz S, Ardestani A, Kawahira H, Georgia S, Bosco D, et al. Deletion of the mitochondrial flavoprotein apoptosis inducing factor (AIF) induces beta-cell apoptosis and impairs beta-cell mass. PLoS ONE. 2009;4:e4394 pubmed publisher
    ..In the present study, we investigated the role of AIF on beta-cell mass and survival using the Harlequin (Hq) mutant mice, which are hypomorphic for AIF...
  13. Zhu C, Wang X, Huang Z, Qiu L, Xu F, Vahsen N, et al. Apoptosis-inducing factor is a major contributor to neuronal loss induced by neonatal cerebral hypoxia-ischemia. Cell Death Differ. 2007;14:775-84 pubmed
    Nine-day-old harlequin (Hq) mice carrying the hypomorphic apoptosis-inducing factor (AIF)(Hq) mutation expressed 60% less AIF, 18% less respiratory chain complex I and 30% less catalase than their wild-type (Wt) littermates...
  14. Cheung E, Joza N, Steenaart N, McClellan K, Neuspiel M, McNamara S, et al. Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis. EMBO J. 2006;25:4061-73 pubmed
    The mitochondrial protein apoptosis-inducing factor (AIF) translocates to the nucleus and induces apoptosis. Recent studies, however, have indicated the importance of AIF for survival in mitochondria...
  15. Pospisilik J, Knauf C, Joza N, Benit P, Orthofer M, Cani P, et al. Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Cell. 2007;131:476-91 pubmed
    ..Here, we show that muscle- and liver-specific AIF ablation in mice initiates a pattern of OxPhos deficiency closely mimicking that of human insulin resistance, and ..
  16. Cheung E, Melanson Drapeau L, Cregan S, Vanderluit J, Ferguson K, McIntosh W, et al. Apoptosis-inducing factor is a key factor in neuronal cell death propagated by BAX-dependent and BAX-independent mechanisms. J Neurosci. 2005;25:1324-34 pubmed
    ..the role of AIF in BAX-dependent (DNA damage induced) and BAX-independent (excitotoxic) neuronal death, we used Harlequin (Hq) mice, which are hypomorphic for AIF...
  17. Vahsen N, Cande C, Briere J, Benit P, Joza N, Larochette N, et al. AIF deficiency compromises oxidative phosphorylation. EMBO J. 2004;23:4679-89 pubmed
    ..b>Harlequin mice with reduced AIF expression due to a retroviral insertion into the AIF gene also manifest a reduced ..
  18. Susin S, Lorenzo H, Zamzami N, Marzo I, Snow B, Brothers G, et al. Molecular characterization of mitochondrial apoptosis-inducing factor. Nature. 1999;397:441-6 pubmed
    ..Here we report the identification and cloning of an apoptosis-inducing factor, AIF, which is sufficient to induce apoptosis of isolated nuclei...
  19. Wang H, Yu S, Koh D, Lew J, Coombs C, Bowers W, et al. Apoptosis-inducing factor substitutes for caspase executioners in NMDA-triggered excitotoxic neuronal death. J Neurosci. 2004;24:10963-73 pubmed
    ..We report here that apoptosis-inducing factor (AIF) mediates PARP-1-dependent glutamate excitotoxicity in a caspase-independent manner after translocation from the ..
  20. Norberg E, Orrenius S, Zhivotovsky B. Mitochondrial regulation of cell death: processing of apoptosis-inducing factor (AIF). Biochem Biophys Res Commun. 2010;396:95-100 pubmed publisher
    ..Apoptosis-inducing factor (AIF) was discovered as the first protein that mediated caspase-independent cell death...
  21. van Empel V, Bertrand A, van Oort R, van der Nagel R, Engelen M, van Rijen H, et al. EUK-8, a superoxide dismutase and catalase mimetic, reduces cardiac oxidative stress and ameliorates pressure overload-induced heart failure in the harlequin mouse mutant. J Am Coll Cardiol. 2006;48:824-32 pubmed
    ..We recently characterized the apoptosis-inducing factor-deficient harlequin (Hq) mouse mutant to display excessive pressure overload-induced oxidative stress, cell death, accelerated ..
  22. Zhu C, Wang X, Deinum J, Huang Z, Gao J, Modjtahedi N, et al. Cyclophilin A participates in the nuclear translocation of apoptosis-inducing factor in neurons after cerebral hypoxia-ischemia. J Exp Med. 2007;204:1741-8 pubmed
    ..the nuclei of damaged neurons after HI, and this nuclear translocation of CypA was suppressed in AIF-deficient harlequin mice. Immunoprecipitation of AIF revealed coprecipitation of CypA, but only in injured, ischemic tissue...
  23. Kondo K, Obitsu S, Ohta S, Matsunami K, Otsuka H, Teshima R. 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. J Biol Chem. 2010;285:13079-91 pubmed publisher
    Poly(ADP-ribose)polymerase-1 (PARP-1) is thought to be required for apoptosis-inducing factor (AIF) release from mitochondria in caspase-independent apoptosis. The mechanism by which AIF is released through PARP-1 remains unclear...
  24. Laliberte A, Macpherson T, Micks T, Yan A, Hill K. Vision deficits precede structural losses in a mouse model of mitochondrial dysfunction and progressive retinal degeneration. Exp Eye Res. 2011;93:833-41 pubmed publisher
    ..The present study was performed to examine an apoptosis-inducing factor (Aif)-deficient model, the harlequin carrier mouse (X(hq)X), and determine how mitochondrial dysfunction and subsequent accelerated aging affect the ..
  25. Peters J, Ball S, Charles D, Pretsch W, Bulfield G, Miller D, et al. The localization of G6pd, glucose-6-phosphate dehydrogenase, and mdx, muscular dystrophy in the mouse X chromosome. Genet Res. 1988;52:195-201 pubmed
  26. Denuc A, Núñez E, Calvo E, Loureiro M, Miro Casas E, Guarás A, et al. New protein-protein interactions of mitochondrial connexin 43 in mouse heart. J Cell Mol Med. 2016;20:794-803 pubmed publisher
    ..Apoptosis-inducing factor (AIF) and the beta-subunit of the electron-transfer protein (ETFB), two proteins unrelated to date with Cx43, fulfilled ..
  27. Sakai T, Liu L, Teng X, Mukai Sakai R, Shimada H, Kaji R, et al. Nucling recruits Apaf-1/pro-caspase-9 complex for the induction of stress-induced apoptosis. J Biol Chem. 2004;279:41131-40 pubmed
    ..These findings suggest that Nucling recruits and transports the apoptosome complex during stress-induced apoptosis. ..
  28. Chu C, Zhu J, Cao G, Signore A, Wang S, Chen J. Apoptosis inducing factor mediates caspase-independent 1-methyl-4-phenylpyridinium toxicity in dopaminergic cells. J Neurochem. 2005;94:1685-95 pubmed
    ..Apoptosis inducing factor (AIF) is a mitochondrial protein that may mediate caspase-independent forms of regulated cell death following its ..
  29. Cabon L, Galán Malo P, Bouharrour A, Delavallée L, Brunelle Navas M, Lorenzo H, et al. BID regulates AIF-mediated caspase-independent necroptosis by promoting BAX activation. Cell Death Differ. 2012;19:245-56 pubmed publisher
    ..mode of cell death involves the sequential activation of poly(ADP-ribose) polymerase-1 (PARP-1), calpains, BAX and AIF, which redistributes from mitochondria to the nucleus to promote chromatinolysis...
  30. Armand A, Laziz I, Djeghloul D, Lecolle S, Bertrand A, Biondi O, et al. Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype. PLoS ONE. 2011;6:e27283 pubmed publisher
    ..Given that the aif hypomorphic harlequin (Hq) mutant mouse model displays severe sarcopenia, we examined skeletal muscle from the aif hypomorphic mice in ..
  31. Xu A, Szczepanek K, Hu Y, Lesnefsky E, Chen Q. Cardioprotection by modulation of mitochondrial respiration during ischemia-reperfusion: role of apoptosis-inducing factor. Biochem Biophys Res Commun. 2013;435:627-33 pubmed publisher
    ..In order to further clarify the role of mitochondrial AIF in BET-mediated protection, Harlequin (Hq) mice, a genetic model with mitochondrial AIF deficiency, were used to test whether BET could still decrease ..
  32. Sorrentino L, Cossu F, Milani M, Aliverti A, Mastrangelo E. Structural bases of the altered catalytic properties of a pathogenic variant of apoptosis inducing factor. Biochem Biophys Res Commun. 2017;490:1011-1017 pubmed publisher
    The apoptosis-inducing factor (AIF) is a FAD-containing protein playing critical roles in caspase-independent apoptosis and mitochondrial respiratory chain biogenesis and maintenance...
  33. Churbanova I, Sevrioukova I. Redox-dependent changes in molecular properties of mitochondrial apoptosis-inducing factor. J Biol Chem. 2008;283:5622-31 pubmed publisher
    Mitochondrial apoptosis-inducing factor (AIF) is a central player in the caspase-independent cell death pathway whose normal physiological function remains unclear...
  34. Brockdorff N, Cross G, Cavanna J, Fisher E, Lyon M, Davies K, et al. The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. Nature. 1987;328:166-8 pubmed
    ..These sequences map provocatively close to the mdx mutation and unexpectedly distant from sparse fur, spf, the mouse homologue of OTC (ornithine transcarbamylase) which is closely linked to DMD on the human X chromosome. ..
  35. Landshamer S, Hoehn M, Barth N, Duvezin Caubet S, Schwake G, Tobaben S, et al. Bid-induced release of AIF from mitochondria causes immediate neuronal cell death. Cell Death Differ. 2008;15:1553-63 pubmed publisher
    Mitochondrial dysfunction and release of pro-apoptotic factors such as cytochrome c or apoptosis-inducing factor (AIF) from mitochondria are key features of neuronal cell death...
  36. Kolthur Seetharam U, Dantzer F, McBurney M, de Murcia G, Sassone Corsi P. Control of AIF-mediated cell death by the functional interplay of SIRT1 and PARP-1 in response to DNA damage. Cell Cycle. 2006;5:873-7 pubmed
    ..The unbalanced regulation of PARP-1 in the absence of SIRT1 results in AIF (apoptosis inducing factor)-mediated cell death...
  37. Chen Q, Paillard M, Gomez L, Ross T, Hu Y, Xu A, et al. Activation of mitochondrial ?-calpain increases AIF cleavage in cardiac mitochondria during ischemia-reperfusion. Biochem Biophys Res Commun. 2011;415:533-8 pubmed publisher
    ..Activation of mito-?-calpain cleaves apoptosis inducing factor (AIF), a flavoprotein located within the mitochondrial intermembrane space, in liver mitochondria, but not in brain ..
  38. Qi Y, Tian X, Liu J, Han Y, Graham A, Simon M, et al. Bnip3 and AIF cooperate to induce apoptosis and cavitation during epithelial morphogenesis. J Cell Biol. 2012;198:103-14 pubmed publisher
    ..We further show that apoptosis-inducing factor (AIF) cooperated with Bnip3 to promote lumen clearance...
  39. Yang H, Ding J, Wang Z, Ding J, Xia X, Zhao W. [X-ray irradiation induces apoptosis of mouse GC1 sperm cells via nuclear translocation of apoptosis-inducing factor]. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2017;33:357-361 pubmed
    Objective To study the effect of X-ray irradiation on the localization of apoptosis inducing factor (AIF) in mouse GC1 sperm cells...
  40. Yu S, Wang H, Poitras M, Coombs C, Bowers W, Federoff H, et al. Mediation of poly(ADP-ribose) polymerase-1-dependent cell death by apoptosis-inducing factor. Science. 2002;297:259-63 pubmed
    ..We show that PARP-1 activation is required for translocation of apoptosis-inducing factor (AIF) from the mitochondria to the nucleus and that AIF is necessary for PARP-1-dependent cell death...
  41. Canterini S, Carletti V, Nusca S, Mangia F, Fiorenza M. Multiple TSC22D4 iso-/phospho-glycoforms display idiosyncratic subcellular localizations and interacting protein partners. FEBS J. 2013;280:1320-9 pubmed publisher
  42. Meyer K, Buettner S, Ghezzi D, Zeviani M, Bano D, Nicotera P. Loss of apoptosis-inducing factor critically affects MIA40 function. Cell Death Dis. 2015;6:e1814 pubmed publisher
    ..In patient-derived fibroblasts as well as in tissues and glia cells from Harlequin (Hq) mutant mice, AIF deficiency correlates with decreased MIA40 protein levels, without affecting mRNA ..
  43. Bajt M, Ramachandran A, Yan H, Lebofsky M, Farhood A, Lemasters J, et al. Apoptosis-inducing factor modulates mitochondrial oxidant stress in acetaminophen hepatotoxicity. Toxicol Sci. 2011;122:598-605 pubmed publisher
    ..To test the hypothesis that AIF may be a critical mediator of APAP-induced cell death, fasted male AIF-deficient Harlequin (Hq) mice and respective wild-type (WT) animals were treated with 200 mg/kg APAP...
  44. Brockdorff N, Fisher E, Cavanna J, Lyon M, Brown S. Construction of a detailed molecular map of the mouse X chromosome by microcloning and interspecific crosses. EMBO J. 1987;6:3291-7 pubmed
    ..Some of the mapped microclones detect moderately repetitive sequences that were clustered in several discrete regions of the mouse X chromosome. ..
  45. Li X, Klaus J, Zhang J, Xu Z, Kibler K, Andrabi S, et al. Contributions of poly(ADP-ribose) polymerase-1 and -2 to nuclear translocation of apoptosis-inducing factor and injury from focal cerebral ischemia. J Neurochem. 2010;113:1012-22 pubmed publisher
    ..poly(ADP-ribose) polymerase-1 (PARP-1), accumulation of PAR polymers, translocation of apoptosis-inducing factor (AIF) from mitochondria to the nucleus, and cell death...
  46. Liang Y. SHARPIN negatively associates with TRAF2-mediated NF?B activation. PLoS ONE. 2011;6:e21696 pubmed publisher
    ..These data suggested that other than activating NF?B signaling by forming ubiquitin ligase complex with RNF31 and RBCK1, SHARPIN may also negatively associate with NF?B activation via interactions with other NF?B members, such as TRAF2. ..
  47. Delettre C, Yuste V, Moubarak R, Bras M, Lesbordes Brion J, Petres S, et al. AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer. J Biol Chem. 2006;281:6413-27 pubmed
    b>AIF is a main mediator of caspase-independent cell death. It is encoded by a single gene located on chromosome X, region q25-26 and A6 in humans and mice, respectively...
  48. Mashimo M, Kato J, Moss J. ADP-ribosyl-acceptor hydrolase 3 regulates poly (ADP-ribose) degradation and cell death during oxidative stress. Proc Natl Acad Sci U S A. 2013;110:18964-9 pubmed publisher
    ..induction of parthanatos, a mechanism for caspase-independent cell death, triggered by apoptosis-inducing factor (AIF) release from mitochondria and its translocation to the nucleus, where it initiates DNA cleavage...
  49. Xu P, Liu X, Xiong X, Zhang W, Cai X, Qiu P, et al. Flavonoids of Rosa roxburghii Tratt Exhibit Anti-Apoptosis Properties by Regulating PARP-1/AIF. J Cell Biochem. 2017;118:3943-3952 pubmed publisher
    ..In the present study, we focused on the effect of FRT on PARP-1/AIF. Ionizing radiation triggered the activation of PARP-1 and AIF translocation from the mitochondrion to the nucleus...
  50. Wang X, Rao R, Kosakowska Cholody T, Masood M, Southon E, Zhang H, et al. Mitochondrial degeneration and not apoptosis is the primary cause of embryonic lethality in ceramide transfer protein mutant mice. J Cell Biol. 2009;184:143-58 pubmed publisher
    ..Thus, global compromise of ER and mitochondrial integrity caused by ceramide accumulation in CERT mutant mice primarily affects organogenesis rather than causing cell death via apoptotic pathways. ..
  51. Stringer J, Larson J, Fischer J, Stringer S. Increased mutation in mice genetically predisposed to oxidative damage in the brain. Mutat Res. 2004;556:127-34 pubmed
    b>Harlequin (Hq) mice develop ataxia due to an X-linked recessive mutation in the gene encoding apoptosis-inducing factor (Aif)...
  52. Hogan M, King L, Sundberg J. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol. 1995;104:31S-32S pubmed
  53. Rao R, Poksay K, Castro Obregon S, Schilling B, Row R, Del Rio G, et al. Molecular components of a cell death pathway activated by endoplasmic reticulum stress. J Biol Chem. 2004;279:177-87 pubmed
    ..Our data identify two molecules, valosin-containing protein and apoptosis-linked gene-2 (ALG-2), that appear to play a role in mediating ER stress-induced cell death. ..
  54. Jung K, Park W, Kim H, Choi E, Kook M, Lee H, et al. TCR-independent and caspase-independent apoptosis of murine thymocytes by CD24 cross-linking. J Immunol. 2004;172:795-802 pubmed
    ..In this study, we suggest that CD24 ligation induced the apoptosis of immature thymocytes independently of both caspase and TCR. ..
  55. Banerjee H, Das A, Srivastava S, Mattoo H, Thyagarajan K, Khalsa J, et al. A role for apoptosis-inducing factor in T cell development. J Exp Med. 2012;209:1641-53 pubmed publisher
    ..We report that aif-hypomorphic harlequin (Hq) mice show thymic hypocellularity and a cell-autonomous thymocyte developmental block associated with ..
  56. Chung S, Calafiore M, Plane J, Pleasure D, Deng W. Apoptosis inducing factor deficiency causes reduced mitofusion 1 expression and patterned Purkinje cell degeneration. Neurobiol Dis. 2011;41:445-57 pubmed publisher
    ..Using immunoblotting and flow cytometry analysis with Harlequin mutant mice that have a proviral insertion in the AIF gene, we first revealed that mitofusion 1 (Mfn1), a key ..
  57. Lusis A, West J. X-linked and autosomal genes controlling mouse alpha-galactosidase expression. Genetics. 1978;88:327-42 pubmed
    ..Among certain recombinant inbred lines, the variation appears to segregate as a single major locus. ..
  58. Rinchik E, Stoye J, Frankel W, Coffin J, Kwon B, Russell L. Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouse. Mutat Res. 1993;286:199-207 pubmed
  59. Hisatomi T, Nakazawa T, Noda K, Almulki L, Miyahara S, Nakao S, et al. HIV protease inhibitors provide neuroprotection through inhibition of mitochondrial apoptosis in mice. J Clin Invest. 2008;118:2025-38 pubmed publisher
    ..factor-1 (Apaf-1), and caspase-9, or a caspase-independent mechanism, involving apoptosis-inducing factor (AIF)...
  60. Bae K, Kim M, Yu D, Shin M, Kim H, Yuh H, et al. Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. Transgenic Res. 2011;20:1019-31 pubmed publisher
    ..These findings suggest that Jazf1 overexpression may induce heart failure symptoms through the upregulation of pro-apoptotic genes in cardiomyocytes. ..
  61. Nielsen J, Chapman V. Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse. Genetics. 1977;87:319-25 pubmed
    ..Pgk-1 showed 29/122 recombinations with Hq, 5/185 with Ta and 0/108 recombinants with Mo. Based on these recombination data, a gene order of Hq-Ta-Pgk-1-Mo is suggested. ..
  62. Aliesky H, Pichurin P, Chen C, Williams R, Rapoport B, McLachlan S. Probing the genetic basis for thyrotropin receptor antibodies and hyperthyroidism in immunized CXB recombinant inbred mice. Endocrinology. 2006;147:2789-800 pubmed
    ..Finally, our study demonstrates the potential of recombinant inbred mice for discriminating between immune-response genes and thyroid function susceptibility genes in Graves' disease. ..
  63. Nasir J, Fisher E, Brockdorff N, Disteche C, Lyon M, Brown S. Unusual molecular characteristics of a repeat sequence island within a Giemsa-positive band on the mouse X chromosome. Proc Natl Acad Sci U S A. 1990;87:399-403 pubmed
    ..First, the repeat sequence island encompasses a 1-megabase region devoid of CpG islands; second, it features a high concentration of L1 long interspersed repeat sequences. ..
  64. Daugas E, Nochy D, Ravagnan L, Loeffler M, Susin S, Zamzami N, et al. Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis. FEBS Lett. 2000;476:118-23 pubmed
    Apoptosis-inducing factor (AIF) is encoded by one single gene located on the X chromosome. AIF is ubiquitously expressed, both in normal tissues and in a variety of cancer cell lines...
  65. Susin S, Daugas E, Ravagnan L, Samejima K, Zamzami N, Loeffler M, et al. Two distinct pathways leading to nuclear apoptosis. J Exp Med. 2000;192:571-80 pubmed
    ..inducers manifest apoptosis-associated alterations including the translocation of apoptosis-inducing factor (AIF) from mitochondria to nuclei, large scale DNA fragmentation, and initial chromatin condensation (stage I)...
  66. Coughlan M, Higgins G, Nguyen T, Penfold S, Thallas Bonke V, Tan S, et al. Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis. Diabetes. 2016;65:1085-98 pubmed publisher patients with diabetic nephropathy showed a decrease in AIF within the renal tubular compartment and lower AIFM1 renal cortical gene expression, which correlated with declining glomerular filtration rate...
  67. Desmots F, Russell H, Michel D, McKinnon P. Scythe regulates apoptosis-inducing factor stability during endoplasmic reticulum stress-induced apoptosis. J Biol Chem. 2008;283:3264-71 pubmed here multiple levels of interaction between Scythe and the apoptogenic mitochondrial intermembrane protein AIF (apoptosis-inducing factor). Scythe physically interacts with AIF and regulates its stability...
  68. Oxler E, Dolga A, Culmsee C. AIF depletion provides neuroprotection through a preconditioning effect. Apoptosis. 2012;17:1027-38 pubmed publisher
    Previous studies established a major role for apoptosis inducing factor (AIF) in neuronal cell death after acute brain injury...
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    ..We found that both AIF and caspase-12 translocate to the nucleus of dying photoreceptors in vivo and in an in vitro cellular model...