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

PubWeight™: 1.58‹?› | Rank: Top 4%

🔗 View Article (PMC 1291246)

Published in Mol Cell Biol on December 01, 2005

Authors

Nicholas Joza1, Gavin Y Oudit, Doris Brown, Paule Bénit, Zamaneh Kassiri, Nicola Vahsen, Loralyn Benoit, Mikin M Patel, Karin Nowikovsky, Anne Vassault, Peter H Backx, Teiji Wada, Guido Kroemer, Pierre Rustin, Josef M Penninger

Author Affiliations

1: Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Dr. Bohrgasse 3-5, 1030 Vienna, Austria. nicholas.joza@imba.oeaw.ac.at

Articles citing this

The role of mitochondria in apoptosis*. Annu Rev Genet (2009) 3.44

A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function. Cell (2010) 2.27

Poly(ADP-ribose) signals to mitochondrial AIF: a key event in parthanatos. Exp Neurol (2009) 2.24

Parthanatos, a messenger of death. Front Biosci (Landmark Ed) (2009) 1.84

No death without life: vital functions of apoptotic effectors. Cell Death Differ (2008) 1.80

Role of AIF in cardiac apoptosis in hypertrophic cardiomyocytes from Dahl salt-sensitive rats. Cardiovasc Res (2010) 1.62

Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis. EMBO J (2006) 1.59

The role of mitochondria in the pathophysiology of skeletal muscle insulin resistance. Endocr Rev (2009) 1.57

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2010) 1.53

Apoptosis-Inducing-Factor-Dependent Mitochondrial Function Is Required for T Cell but Not B Cell Function. Immunity (2016) 1.40

Apoptosis-inducing factor: structure, function, and redox regulation. Antioxid Redox Signal (2011) 1.37

Mitochondrial centrality in heart failure. Heart Fail Rev (2008) 1.28

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) 1.24

Cuts can kill: the roles of apoptotic nucleases in cell death and animal development. Chromosoma (2006) 1.22

Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med (2009) 1.17

Parthanatos: mitochondrial-linked mechanisms and therapeutic opportunities. Br J Pharmacol (2014) 1.12

HIV protease inhibitors provide neuroprotection through inhibition of mitochondrial apoptosis in mice. J Clin Invest (2008) 1.11

Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP. Mol Cell Biol (2007) 1.03

Redox-linked conformational dynamics in apoptosis-inducing factor. J Mol Biol (2009) 1.03

AIF, reactive oxygen species, and neurodegeneration: a "complex" problem. Neurochem Int (2012) 1.02

The molecular archaeology of a mitochondrial death effector: AIF in Drosophila. Cell Death Differ (2008) 0.98

Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process. Mol Genet Genomics (2008) 0.97

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS One (2008) 0.97

Control of AIF-mediated cell death by antagonistic functions of CHIP ubiquitin E3 ligase and USP2 deubiquitinating enzyme. Cell Death Differ (2011) 0.95

Response of caspase-independent apoptotic factors to high salt diet-induced heart failure. J Mol Cell Cardiol (2007) 0.93

Mitochondrial dysfunction: a basic mechanism in inflammation-related non-communicable diseases and therapeutic opportunities. Mediators Inflamm (2013) 0.93

Apoptosis in cardiovascular diseases: mechanism and clinical implications. Korean Circ J (2010) 0.93

Bnip3 and AIF cooperate to induce apoptosis and cavitation during epithelial morphogenesis. J Cell Biol (2012) 0.92

Cell death signaling and anticancer therapy. Front Oncol (2011) 0.91

Photoreceptor cell death and rescue in retinal detachment and degenerations. Prog Retin Eye Res (2013) 0.91

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. J Inherit Metab Dis (2010) 0.90

Mitochondria in heart failure: the emerging role of mitochondrial dynamics. Heart Fail Rev (2013) 0.90

Mitochondria and heart failure: new insights into an energetic problem. Minerva Cardioangiol (2010) 0.90

Stimulation of inducible nitric oxide synthase expression by beta interferon increases necrotic death of macrophages upon Listeria monocytogenes infection. Infect Immun (2008) 0.89

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. J Biol Chem (2012) 0.89

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. Proc Natl Acad Sci U S A (2012) 0.88

Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects. J Neurosci (2008) 0.85

Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation. Biochemistry (2011) 0.85

The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization. Am J Pathol (2012) 0.84

Mitochondrial inhibitor as a new class of insulin sensitizer. Acta Pharm Sin B (2012) 0.83

Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype. PLoS One (2011) 0.83

Apoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2). J Biol Chem (2015) 0.82

Mouse models of oxidative phosphorylation dysfunction and disease. Methods (2008) 0.82

Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice. PLoS One (2011) 0.81

Steroid receptor coactivator-interacting protein (SIP) inhibits caspase-independent apoptosis by preventing apoptosis-inducing factor (AIF) from being released from mitochondria. J Biol Chem (2012) 0.80

A deficiency of apoptosis inducing factor (AIF) in Harlequin mouse heart mitochondria paradoxically reduces ROS generation during ischemia-reperfusion. Front Physiol (2014) 0.80

Loss of Mitochondrial Function Impairs Lysosomes. J Biol Chem (2016) 0.80

Nutrient availability links mitochondria, apoptosis, and obesity. Aging (Albany NY) (2012) 0.80

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. Mitochondrion (2015) 0.80

A role for apoptosis-inducing factor in T cell development. J Exp Med (2012) 0.79

Paraoxonase-1 inhibits oxidized low-density lipoprotein-induced metabolic alterations and apoptosis in endothelial cells: a nondirected metabolomic study. Mediators Inflamm (2013) 0.79

Oxidative Stress Impairs Cell Death by Repressing the Nuclease Activity of Mitochondrial Endonuclease G. Cell Rep (2016) 0.78

Lipoxygenases and poly(ADP-ribose) polymerase in amyloid beta cytotoxicity. Neurochem Res (2011) 0.77

Role of apoptosis-inducing factor (Aif) in the T cell lineage. Indian J Med Res (2013) 0.77

The enzymatic activity of apoptosis-inducing factor supports energy metabolism benefiting the growth and invasiveness of advanced prostate cancer cells. J Biol Chem (2012) 0.77

Mouse models of mitochondrial complex I dysfunction. Int J Biochem Cell Biol (2012) 0.77

Pathophysiological Role of Peroxynitrite Induced DNA Damage in Human Diseases: A Special Focus on Poly(ADP-ribose) Polymerase (PARP). Indian J Clin Biochem (2015) 0.76

Key Targets for Multi-Target Ligands Designed to Combat Neurodegeneration. Front Neurosci (2016) 0.76

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud (2017) 0.75

New protein-protein interactions of mitochondrial connexin 43 in mouse heart. J Cell Mol Med (2016) 0.75

Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4. Cell Cycle (2015) 0.75

Basal metabolic state governs AIF-dependent growth support in pancreatic cancer cells. BMC Cancer (2016) 0.75

Articles cited by this

Mitochondria and apoptosis. Science (1998) 23.41

Cell death: critical control points. Cell (2004) 22.56

Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes. Free Radic Biol Med (1991) 16.01

Molecular characterization of mitochondrial apoptosis-inducing factor. Nature (1999) 14.41

Mitochondrial diseases in man and mouse. Science (1999) 11.67

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature (1987) 10.32

Mitochondrial respiratory-chain diseases. N Engl J Med (2003) 8.68

Biochemical pathways of caspase activation during apoptosis. Annu Rev Cell Dev Biol (1999) 8.21

A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance. Mol Cell (1998) 8.10

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet (1998) 7.89

Cardiac hypertrophy: the good, the bad, and the ugly. Annu Rev Physiol (2003) 6.99

Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death. Nature (2001) 5.07

Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93

Regulation of myocardial contractility and cell size by distinct PI3K-PTEN signaling pathways. Cell (2002) 4.35

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26

Improved properties of FLP recombinase evolved by cycling mutagenesis. Nat Biotechnol (1998) 4.14

Signaling pathways for cardiac hypertrophy and failure. N Engl J Med (1999) 3.97

Analysis of Fgf8 gene function in vertebrate development. Cold Spring Harb Symp Quant Biol (1997) 3.51

Cytochrome c deficiency causes embryonic lethality and attenuates stress-induced apoptosis. Cell (2000) 3.39

The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature (2002) 3.30

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet (1997) 3.26

AIF deficiency compromises oxidative phosphorylation. EMBO J (2004) 3.19

Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc Natl Acad Sci U S A (1999) 2.91

Catalase: Physical and chemical properties, mechanism of catalysis, and physiological role. Physiol Rev (1970) 2.69

Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A (1999) 2.58

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet (1999) 2.57

Increased mitochondrial mass in mitochondrial myopathy mice. Proc Natl Acad Sci U S A (2002) 2.38

L-type Ca2+ channels provide a major pathway for iron entry into cardiomyocytes in iron-overload cardiomyopathy. Nat Med (2003) 2.38

Mechanisms of AIF-mediated apoptotic DNA degradation in Caenorhabditis elegans. Science (2002) 2.36

An AIF orthologue regulates apoptosis in yeast. J Cell Biol (2004) 2.33

MtDNA mutations in aging and apoptosis. Biochem Biophys Res Commun (2003) 2.02

Blue-native gels to isolate protein complexes from mitochondria. Methods Cell Biol (2001) 1.99

Oxidative stress, cell cycle, and neurodegeneration. J Clin Invest (2003) 1.84

Respiratory chain supercomplexes of mitochondria and bacteria. Biochim Biophys Acta (2002) 1.69

Dominant cell death induction by extramitochondrially targeted apoptosis-inducing factor. FASEB J (2001) 1.64

A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts. Proc Natl Acad Sci U S A (2004) 1.53

Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet (2001) 1.47

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) 1.41

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet (2004) 1.26

Mitochondrial DNA in aging and disease. Sci Am (1997) 1.25

Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr (1996) 1.10

Biogenesis of respiratory complex I. J Bioenerg Biomembr (2001) 1.06

Animal models for respiratory chain disease. Trends Mol Med (2001) 1.03

Articles by these authors

Autophagy in the pathogenesis of disease. Cell (2008) 34.68

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat Rev Mol Cell Biol (2007) 15.47

The hallmarks of aging. Cell (2013) 14.29

Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy. Nat Med (2007) 13.90

The pathophysiology of mitochondrial cell death. Science (2004) 13.87

Functional and physical interaction between Bcl-X(L) and a BH3-like domain in Beclin-1. EMBO J (2007) 11.72

Calreticulin exposure dictates the immunogenicity of cancer cell death. Nat Med (2006) 10.54

Inhibition of macroautophagy triggers apoptosis. Mol Cell Biol (2005) 10.27

VEGF inhibition and renal thrombotic microangiopathy. N Engl J Med (2008) 9.87

Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07

Molecular mechanisms of necroptosis: an ordered cellular explosion. Nat Rev Mol Cell Biol (2010) 9.06

Activation of the NLRP3 inflammasome in dendritic cells induces IL-1beta-dependent adaptive immunity against tumors. Nat Med (2009) 6.73

Immunological aspects of cancer chemotherapy. Nat Rev Immunol (2008) 6.61

Identification of oxidative stress and Toll-like receptor 4 signaling as a key pathway of acute lung injury. Cell (2008) 6.37

Cancer despite immunosurveillance: immunoselection and immunosubversion. Nat Rev Immunol (2006) 6.13

Current development of mTOR inhibitors as anticancer agents. Nat Rev Drug Discov (2006) 5.99

Regulation of autophagy by cytoplasmic p53. Nat Cell Biol (2008) 5.97

Autophagy and aging. Cell (2011) 5.96

Evidence for osteocyte regulation of bone homeostasis through RANKL expression. Nat Med (2011) 5.66

Autophagy-dependent anticancer immune responses induced by chemotherapeutic agents in mice. Science (2011) 5.62

Regulation of cancer cell migration and bone metastasis by RANKL. Nature (2006) 5.27

Cytoplasmic functions of the tumour suppressor p53. Nature (2009) 5.23

Angiotensin-converting enzyme 2 is an essential regulator of heart function. Nature (2002) 5.02

Induction of autophagy by spermidine promotes longevity. Nat Cell Biol (2009) 5.00

Mitogen-activated protein kinases in apoptosis regulation. Oncogene (2004) 4.76

Cell death by mitotic catastrophe: a molecular definition. Oncogene (2004) 4.75

Cell death by necrosis: towards a molecular definition. Trends Biochem Sci (2006) 4.67

The intestinal microbiota modulates the anticancer immune effects of cyclophosphamide. Science (2013) 4.60

Bcl-2 family members: dual regulators of apoptosis and autophagy. Autophagy (2008) 4.42

An immunosurveillance mechanism controls cancer cell ploidy. Science (2012) 4.35

Regulation of myocardial contractility and cell size by distinct PI3K-PTEN signaling pathways. Cell (2002) 4.35

Immunogenic and tolerogenic cell death. Nat Rev Immunol (2009) 4.34

Caspase-dependent immunogenicity of doxorubicin-induced tumor cell death. J Exp Med (2005) 4.32

The adaptor protein CARD9 is essential for the activation of myeloid cells through ITAM-associated and Toll-like receptors. Nat Immunol (2007) 4.12

Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet (2004) 4.11

Electrical signals control wound healing through phosphatidylinositol-3-OH kinase-gamma and PTEN. Nature (2006) 4.09

Targeting mitochondria for cancer therapy. Nat Rev Drug Discov (2010) 4.07

Osteoclast differentiation factor RANKL controls development of progestin-driven mammary cancer. Nature (2010) 4.01

The anticancer immune response: indispensable for therapeutic success? J Clin Invest (2008) 4.01

The apoptosis/autophagy paradox: autophagic vacuolization before apoptotic death. J Cell Sci (2005) 3.93

Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Cell (2007) 3.82

Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4. Nature (2002) 3.74

Mitochondria and the autophagy-inflammation-cell death axis in organismal aging. Science (2011) 3.74

Mechanism of action of conventional and targeted anticancer therapies: reinstating immunosurveillance. Immunity (2013) 3.73

RANKL-RANK signaling in osteoclastogenesis and bone disease. Trends Mol Med (2005) 3.68

Tumor cells convert immature myeloid dendritic cells into TGF-beta-secreting cells inducing CD4+CD25+ regulatory T cell proliferation. J Exp Med (2005) 3.64

The secret ally: immunostimulation by anticancer drugs. Nat Rev Drug Discov (2012) 3.60

Decoding cell death signals in inflammation and immunity. Cell (2010) 3.41

Immune parameters affecting the efficacy of chemotherapeutic regimens. Nat Rev Clin Oncol (2011) 3.41

Mitotic catastrophe: a mechanism for avoiding genomic instability. Nat Rev Mol Cell Biol (2011) 3.40

Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis. Immunity (2003) 3.36

RANK-L and RANK: T cells, bone loss, and mammalian evolution. Annu Rev Immunol (2001) 3.27

A crucial role of angiotensin converting enzyme 2 (ACE2) in SARS coronavirus-induced lung injury. Nat Med (2005) 3.26

Anticancer chemotherapy-induced intratumoral recruitment and differentiation of antigen-presenting cells. Immunity (2013) 3.26

SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell (2013) 3.24

Does autophagy contribute to cell death? Autophagy (2005) 3.21

A novel dendritic cell subset involved in tumor immunosurveillance. Nat Med (2006) 3.21

Heat shock proteins 27 and 70: anti-apoptotic proteins with tumorigenic properties. Cell Cycle (2006) 3.21

The lipid mediator protectin D1 inhibits influenza virus replication and improves severe influenza. Cell (2013) 3.19

AIF deficiency compromises oxidative phosphorylation. EMBO J (2004) 3.19

Control of cell polarity and motility by the PtdIns(3,4,5)P3 phosphatase SHIP1. Nat Cell Biol (2006) 3.19

Angiotensin-converting enzyme 2 protects from severe acute lung failure. Nature (2005) 3.09

Epidermal RANKL controls regulatory T-cell numbers via activation of dendritic cells. Nat Med (2006) 3.09

BH3-only proteins and BH3 mimetics induce autophagy by competitively disrupting the interaction between Beclin 1 and Bcl-2/Bcl-X(L). Autophagy (2007) 3.08

SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet (2010) 3.07

Alternatively spliced NKp30 isoforms affect the prognosis of gastrointestinal stromal tumors. Nat Med (2011) 3.03

The interaction between HMGB1 and TLR4 dictates the outcome of anticancer chemotherapy and radiotherapy. Immunol Rev (2007) 2.96

Abnormal TNF activity in Timp3-/- mice leads to chronic hepatic inflammation and failure of liver regeneration. Nat Genet (2004) 2.96

Blockade of receptor activator of nuclear factor-κB (RANKL) signaling improves hepatic insulin resistance and prevents development of diabetes mellitus. Nat Med (2013) 2.93

RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla. J Exp Med (2007) 2.91

Drosophila genome-wide obesity screen reveals hedgehog as a determinant of brown versus white adipose cell fate. Cell (2010) 2.91

The role of phosphoinositide-3 kinase and PTEN in cardiovascular physiology and disease. J Mol Cell Cardiol (2004) 2.90

The tumor necrosis factor family receptors RANK and CD40 cooperatively establish the thymic medullary microenvironment and self-tolerance. Immunity (2008) 2.81

Essential role of the E3 ubiquitin ligase Cbl-b in T cell anergy induction. Immunity (2004) 2.76

Stimulation of autophagy by the p53 target gene Sestrin2. Cell Cycle (2009) 2.72

Mechanisms of pre-apoptotic calreticulin exposure in immunogenic cell death. EMBO J (2009) 2.72

Forward and reverse genetics through derivation of haploid mouse embryonic stem cells. Cell Stem Cell (2011) 2.69

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68

Hypertension and prolonged vasoconstrictor signaling in RGS2-deficient mice. J Clin Invest (2003) 2.68

The MAGUK family protein CARD11 is essential for lymphocyte activation. Immunity (2003) 2.67