| 1 | MMDFS, NFU1
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| Phenotypic continuum of NFU1-related disorders.
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| Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R.
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| Ann Clin Transl Neurol. Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18 2022
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| 2 | MMDFS, NFU1
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| Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway
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| Wachnowsky C, Wesley NA, Fidai I, Cowan JA.
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| J Mol Biol. Mar 24;429(6):790-807. doi: 10.1016/j.jmb.2017.01.021. Epub 2017 Feb 1. 2017
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| 3 | MMDFS, NFU1
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| Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
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| Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.
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| Front Genet. Apr 13;6:123. doi: 10.3389/fgene.2015.00123 2015
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| 4 | MMDFS, NFU1
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| Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
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| Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I.
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| Front Genet. Nov 20;5:412. doi: 10.3389/fgene.2014.00412. 2014
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| 5 | MMDFS, NFU1
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| A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins.
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| Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R.
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| Am J Hum Genet 89(5):656-67.
2011
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| 6 | BOLA3, ISCU, MMDFS, MMDS2, NFU1
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| Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes.
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| Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH.
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| Am J Hum Genet 89(4):486-95. Epub 2011 Sep 22.
2011
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| 7 | FLAMM, MMDFS
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| A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
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| Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH.
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| Am J Hum Genet 68(2):386-96. 2001
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