Citations for
1ISCA2, MMDS4
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S.
Metab Brain Dis 33(3):805-812. doi: 10.1007/s11011-017-0181-3. Epub 2018 Jan 23. 2018
2ISCA2
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE.
Hum Mutat 39(4):537-549. doi: 10.1002/humu.23396. Epub 2018 Jan 22. 2018
3ISCA2, MMDS4
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
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.
Eur J Paediatr Neurol 22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16. 2018
4ISCA1, ISCA2
ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.
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.
Nat Commun 8:15124. doi: 10.1038/ncomms15124. 2017
5BOLA3, IBA57, ISCA2, NFU1
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
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.
Mol Genet Metab. Nov;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3. 2017
6ISCA2, MMDS4
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
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.
J Med Genet 52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. 2015
7ISCA1, ISCA2
Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery.
Brancaccio D, Gallo A, Mikolajczyk M, Zovo K, Palumaa P, Novellino E, Piccioli M, Ciofi-Baffoni S, Banci L.
J Am Chem Soc 136(46):16240-50. doi: 10.1021/ja507822j. Epub 2014 Nov 7. 2014
8GLRX5, ISCA1, ISCA2
[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
Banci L, Brancaccio D, Ciofi-Baffoni S, Del Conte R, Gadepalli R, Mikolajczyk M, Neri S, Piccioli M, Winkelmann J.
Proc Natl Acad Sci U S A 111(17):6203-8. doi: 10.1073/pnas.1400102111. Epub 2014 Apr 14. 2014