1 | ISCA2, MMDS4
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| Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
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| Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S.
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| Metab Brain Dis 33(3):805-812. doi: 10.1007/s11011-017-0181-3. Epub 2018 Jan 23.
2018
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2 | ISCA2
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| Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
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| Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE.
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| Hum Mutat 39(4):537-549. doi: 10.1002/humu.23396. Epub 2018 Jan 22.
2018
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3 | ISCA2, MMDS4
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| Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
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| Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N.
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| Eur J Paediatr Neurol 22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.
2018
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4 | ISCA1, ISCA2
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| ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.
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| Beilschmidt LK, Ollagnier de Choudens S, Fournier M, Sanakis I, Hograindleur MA, Clémancey M, Blondin G, Schmucker S, Eisenmann A, Weiss A, Koebel P, Messaddeq N, Puccio H, Martelli A.
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| Nat Commun 8:15124. doi: 10.1038/ncomms15124.
2017
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5 | 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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6 | ISCA2, MMDS4
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| ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
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| Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N.
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| J Med Genet 52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24.
2015
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7 | ISCA1, ISCA2
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| Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery.
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| Brancaccio D, Gallo A, Mikolajczyk M, Zovo K, Palumaa P, Novellino E, Piccioli M, Ciofi-Baffoni S, Banci L.
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| J Am Chem Soc 136(46):16240-50. doi: 10.1021/ja507822j. Epub 2014 Nov 7.
2014
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8 | GLRX5, ISCA1, ISCA2
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| [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
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| Banci L, Brancaccio D, Ciofi-Baffoni S, Del Conte R, Gadepalli R, Mikolajczyk M, Neri S, Piccioli M, Winkelmann J.
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| Proc Natl Acad Sci U S A 111(17):6203-8. doi: 10.1073/pnas.1400102111. Epub 2014 Apr 14.
2014
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