| 1 | IBA57, MMDS3
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| Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome
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| Zhan F, Liu X, Ni R, Liu T, Cao Y, Wu J, Tian W, Luan X, Cao L.
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| Metab Brain Dis. Feb;37(2):311-317. doi: 10.1007/s11011-021-00856-8. Epub 2021 Oct 28 2022
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| 2 | IBA57
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| The iron-sulfur cluster assembly (ISC) protein Iba57 executes a tetrahydrofolate-independent function in mitochondrial [4Fe-4S] protein maturation.
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| Mühlenhoff U, Weiler BD, Nadler F, Millar R, Kothe I, Freibert SA, Altegoer F, Bange G, Lill R.
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| J Biol Chem. Oct;298(10):102465. doi: 10.1016/j.jbc.2022.102465. Epub 2022 Sep 6 2022
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| 3 | BOLA3, IBA57, ISCA2, NFU1
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| Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
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| Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A.
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| Mol Genet Metab. Nov;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3. 2017
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| 4 | IBA57, SPG74
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| Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
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| Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R.
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| Neurology 84(7):659-67. doi: 10.1212/WNL.0000000000001270. Epub 2015 Jan 21.
2015
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| 5 | IBA57, MMDS3
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| Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
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| Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R.
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| J Inherit Metab Dis. Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14. 2015
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| 6 | IBA57, MMDS3
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| Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
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| Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R.
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| Hum Mol Genet um Mol Genet. 2013 Mar 15. [Epub ahead of print] 2013
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| 7 | IBA57, ISCA1, ISCA1
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| The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
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| Sheftel AD, Wilbrecht C, Stehling O, Niggemeyer B, Elsässer HP, Mühlenhoff U, Lill R.
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| Mol Biol Cell 23(7):1157-66. doi: 10.1091/mbc.E11-09-0772. Epub 2012 Feb 9.
2012
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| 8 | GLRX5, IBA57, ISCU
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| Erythropoiesis and iron sulfur cluster biogenesis.
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| Ye H, Rouault TA.
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| Adv Hematol 2010. pii: 329394. Epub 2010 Aug 31.PMID: 20862391 2010
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| 9 | IBA57
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| Mitochondrial Iba57p is required for Fe/S cluster formation on aconitase and activation of radical SAM enzymes.
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| Gelling C, Dawes IW, Richhardt N, Lill R, Mühlenhoff U.
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| Mol Cell Biol 28(5):1851-61. Epub 2007 Dec 17.
2008
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| 10 | AADACL3, AADACL4, ADCK3, AGBL1, AGBL4, ANKRD13C, ANKRD45, ATP13A2, B3GALT2, B3GALT4, B3GALT6, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, BLZF1, BSDC1, C1orf100, C1orf101, C1orf103, C1orf104, C1orf110, C1orf115, C1orf120, C1orf122, C1orf123, C1orf126, C1orf130, C1orf31, C1orf35, C1orf49, C1orf51, C1orf53, C1orf54, C1orf65, C1orf74, C1orf95, C1orf97, CCDC76, CCDC76, CCT3, COL16A1, DDX59, DENND2D, DNALI1, DPM3, FAM131C, FAM167B, FAM176B, FAM76A, FAM78B, FHAD1, FMO4, GJC2, GLUL, GNPAT, GPR157, GPR161, GPR89A, GPR89B, GPR89C, HMGN2, HSPB7, IBA57, ITGB3BP, KIAA1107, KLHL20, MAN1A2, MAP1LC3C, METTL11B, MLK4, MRTO4, NFYC, OR2M3, OR2M7, OR2T12, OR2T33, OR2T34, OR4F16, PEX10, PLA2G2D, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PTCH2, RC3H1, RGS18, RIMKLA, SEP15, SLC35D1, SMYD2, SRARP, STX6, TBX15, TRIM62, TTLL7, VASH2, WLS, ZBTB18, ZMYM1, ZNF436, ZNF642
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| The DNA sequence and biological annotation of human chromosome 1.
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| Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E.
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| Nature 441(7091):315-21. 2006
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