| 1 | MTDPS12, SLC25A4
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| Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
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| Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Őunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.
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| Am J Hum Genet 99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014.
2016
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| 2 | MTDPS12, SLC25A4
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| Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
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| Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ.
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| JIMD Rep IMD Rep. 2015 Mar 3. [Epub ahead of print]
2015
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| 3 | SLC25A4
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| Adenine nucleotide translocase is acetylated in vivo in human muscle: Modeling predicts a decreased ADP affinity and altered control of oxidative phosphorylation.
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| Mielke C, Lefort N, McLean CG, Cordova JM, Langlais PR, Bordner AJ, Te JA, Ozkan SB, Willis WT, Mandarino LJ.
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| Biochemistry 53(23):3817-29. doi: 10.1021/bi401651e. Epub 2014 Jun 9.
2014
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| 4 | MTDPS12, SLC25A4
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| Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
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| Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC.
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| Proc Natl Acad Sci U S A 110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
2013
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| 5 | SLC25A4
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| ANT1 is reduced in sporadic inclusion body myositis.
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| Barca E, Aguennouz M, Mazzeo A, Messina S, Toscano A, Vita GL, Portaro S, Parisi D, Rodolico C.
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| Neurol Sci 34(2):217-24. doi: 10.1007/s10072-012-0976-2. Epub 2012 Feb 21.
2013
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| 6 | SLC25A31, SLC25A4, SLC25A5, SLC25A6
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| The mitochondrial ADP/ATP carrier (SLC25 family): pathological implications of its dysfunction.
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| Clémençon B, Babot M, Trézéguet V.
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| Mol Aspects Med 34(2-3):485-93. doi: 10.1016/j.mam.2012.05.006. Review.
2013
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| 7 | CACM2, MTDPS12, SLC25A4
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| Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
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| Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.
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| J Med Genet 49(2):146-50. Epub 2011 Dec 20. 2012
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| 8 | SLC25A4, VDAC1
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| ANT-VDAC1 interaction is direct and depends on ANT isoform conformation in vitro.
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| Allouche M, Pertuiset C, Robert JL, Martel C, Veneziano R, Henry C, dein OS, Saint N, Brenner C, Chopineau J.
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| Biochem Biophys Res Commun 429(1-2):12-7. doi: 10.1016/j.bbrc.2012.10.108. Epub 2012 Nov 3.
2012
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| 9 | PEO2, SLC25A4
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| adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
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| Kawamata H, Tiranti V, Magrané J, Chinopoulos C, Manfredi G.
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| Hum Mol Genet 20(15):2964-74. Epub 2011 May 17.
2011
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| 10 | C10orf2, PEO2, PEO3, SLC25A4
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| SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
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| Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS.
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| J Clin Neurol 7(1):25-30. Epub 2011 Mar 31.
2011
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| 11 | SLC25A31, SLC25A4, SLC25A5, SLC25A6
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| Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism.
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| Chevrollier A, Loiseau D, Reynier P, Stepien G.
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| Biochim Biophys Acta 1807(6):562-7. doi: 10.1016/j.bbabio.2010.10.008. Epub 2010 Oct 13. Review. 2011
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| 12 | SLC25A4, SLC25A5, SLC25A6
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| Isolation, nucleotide identification and tissue expression of three novel ovine genes-SLC25A4, SLC25A5 and SLC25A6.
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| Yang L, He Y, Kong Q, Zhang W, Xi D, Mao H, Deng W.
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| Mol Biol Rep 37(6):2743-8. Epub 2009 Sep 11.PMID: 19763879 2010
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| 13 | SLC25A4
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| The silencing of adenine nucleotide translocase isoform 1 induces oxidative stress and programmed cell death in ADF human glioblastoma cells.
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| Lena A, Rechichi M, Salvetti A, Vecchio D, Evangelista M, Rainaldi G, Gremigni V, Rossi L.
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| FEBS J 277(13):2853-67. Epub 2010 May 27.PMID: 20528917 2010
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| 14 | SLC25A4
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| Enhancement of fibrinolytic activity in vascular endothelial cells by heterologous expression of adenine nucleotide translocase-1.
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| Ishida C, Ueshima S, Nagai N, Kawao N, Okada K, Yongzhong H, Shiraishi K, Matsuo O.
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| Blood Coagul Fibrinolysis 21(3):272-8.PMID: 20160640 2010
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| 15 | FRG2, MECP2, SLC25A4, YY1
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| The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
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| Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 19(16):3114-23. Epub 2010 May 26.PMID: 20504995 2010
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| 16 | SLC25A4
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| Adenine nucleotide translocase-1 induces cardiomyocyte death through upregulation of the pro-apoptotic protein Bax.
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| Baines CP, Molkentin JD.
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| J Mol Cell Cardiol 46(6):969-77.PMID: 19452617 2009
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| 17 | SLC25A4
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| Adenine nucleotide translocator 1 deficiency increases resistance of mouse brain and neurons to excitotoxic insults.
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| Lee J, Schriner SE, Wallace DC.
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| Biochim Biophys Acta 1787(5):364-70. Epub 2009 Jan 30.PMID: 19366611 2009
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| 18 | PEO2, SLC25A4
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| Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
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| Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.
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| J Neurol 255(9):1384-91. Epub 2008 Jun 30.PMID: 18575922 2008
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| 19 | SLC25A4, SLC25A5
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| Carboxyatractyloside effects on brown-fat mitochondria imply that the adenine nucleotide translocator isoforms ANT1 and ANT2 may be responsible for basal and fatty-acid-induced uncoupling respectively.
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| Shabalina IG, Kramarova TV, Nedergaard J, Cannon B.
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| Biochem J 399(3):405-14.
2006
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| 20 | SLC25A4
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| Overexpression of adenine nucleotide translocase reduces Ca2+ signal transmission between the ER and mitochondria.
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| Wieckowski MR, Szabadkai G, Wasilewski M, Pinton P, Duszyński J, Rizzuto R.
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| Biochem Biophys Res Commun 348(2):393-9. Epub 2006 Jul 25.PMID: 16887100 2006
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| 21 | SLC25A4, PEO2
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| Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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| Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.
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| Hum Mol Genet 14(20):3079-88. Epub 2005 Sep 9. 2005
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| 22 | SLC25A4
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| Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.
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| Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, Desnuelle C, Vassetzky Y, Fernandez A.
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| J Mol Med 83(3):216-24. Epub 2004 Nov 17. 2005
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| 23 | MTDPS12, SLC25A4
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| Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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| Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.
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| Hum Mol Genet 14(20):3079-88. Epub 2005 Sep 9.
2005
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| 24 | C10orf2, PEO1, PEO3, POLG, SLC25A4
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| Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
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| Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.
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| Nucleic Acids Res 32(10):3053-64. Print 2004. 2004
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| 25 | C10orf2, PEO2, PEO3, PEO4, POLG, SLC25A4
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| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
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| Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
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| Neurology 60(8):1354-6. 2003
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| 26 | FRG1, HMGB2, NCL, SLC25A4 , YY1
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| Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle.
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| Gabellini D, Green MR, Tupler R.
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| Cell 110(3):339-48. 2002
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| 27 | PEO2, SLC25A4
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| Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia.
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| Chen XJ.
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| Hum Mol Genet 11(16):1835-43. 2002
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| 28 | SLC25A4, PEO2
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| A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
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| Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y.
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| Ann Neurol 51(5):645-8. 2002
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| 29 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 30 | PPID, SLC25A4, SLC25A6, SLC25A6Y
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| Direct demonstration of a specific interaction between cyclophilin-D and the adenine nucleotide translocase confirms their role in the mitochondrial permeability transition.
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| Woodfield K, Ruck A, Brdiczka D, Halestrap AP.
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| Biochem J 336 ( Pt 2):287-90. 1998
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| 31 | SLC25A4
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| A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator.
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| Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC.
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| Nat Genet 16(3):226-34. 1997
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| 32 | FSHMD1A, SLC25A4
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| Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.
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| Haraguchi Y, et al.
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| Genomics 16 : 479-485. 1993
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| 33 | FSHMD1A, SLC25A4
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| The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
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| Wijmenga C, et al.
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| Hum Genet 92 : 198-203. 1993
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| 34 | SLC25A4
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| Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35.
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| Wijmenga C, et al.
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| Nucleic Acids Res 20 : 1161. 1992
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| 35 | SLC25A4
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| Assignment of the human muscle adenine mucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization.
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| Fan YS, et al.
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| Cytogenet Cell Genet 60 : 29-30. 1992
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| 36 | SLC25A4
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| A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.
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| Li K, Warner CK, Hodge JA, Minoshima S, Kudoh J, Fukuyama R, Maekawa M, Shimizu Y, Shimizu N, Wallace DC.
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| J Biol Chem 264 : 13998-14004. 1989
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| 37 | SLC25A4
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| Cloning and tissue-differential expression of human heart-skeletal muscle adenine nucleotide translocator gene.
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| Li K, et al.
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| Cytogenet Cell Genet 51 : 1032-1033. 1989
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| 38 | SLC25A4
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| Mapping of the human muscle adenine nucleotide translocator gene (ANT1) to chromosome 4.
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| Minoshima S, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1044-1045. 1989
|