| 1 | NFU1 |
| Structural Plasticity of NFU1 Upon Interaction with Binding Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway. | |
| Da Vela S, Saudino G, Lucarelli F, Banci L, Svergun DI, Ciofi-Baffoni S. | |
| J Mol Biol. May 19;435(15):168154. doi: 10.1016/j.jmb.2023.168154. Epub ahead of print. 2023 | |
| 2 | MMDFS, NFU1 |
| Phenotypic continuum of NFU1-related disorders. | |
| 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. | |
| Ann Clin Transl Neurol. Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18 2022 | |
| 3 | NFU1 |
| Single Mutation in the NFU1 Gene Metabolically Reprograms Pulmonary Artery Smooth Muscle Cells | |
| James J, Zemskova M, Eccles CA, Varghese MV, Niihori M, Barker NK, Luo M, Mandarino LJ, Langlais PR, Rafikova O, Rafikov R. | |
| Arterioscler Thromb Vasc Biol. Feb;41(2):734-754. doi: 10.1161/ATVBAHA.120.314655. Epub 2020 Dec 10. 2021 | |
| 4 | BOLA3, 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 | |
| 5 | MMDFS, NFU1 |
| 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 | |
| Wachnowsky C, Wesley NA, Fidai I, Cowan JA. | |
| J Mol Biol. Mar 24;429(6):790-807. doi: 10.1016/j.jmb.2017.01.021. Epub 2017 Feb 1. 2017 | |
| 6 | BOLA3, NFU1 |
| Role of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients. | |
| Melber A, Na U, Vashisht A, Weiler BD, Lill R, Wohlschlegel JA, Winge DR. | |
| Elife Aug 17;5:e15991. doi: 10.7554/eLife.15991 2016 | |
| 7 | NFU1 |
| Structural/Functional Properties of Human NFU1, an Intermediate [4Fe-4S] Carrier in Human Mitochondrial Iron-Sulfur Cluster Biogenesis. | |
| Cai K, Liu G, Frederick RO, Xiao R, Montelione GT, Markley JL. | |
| Structure. Dec 6;24(12):2080-2091. doi: 10.1016/j.str.2016.08.020. Epub 2016 Nov 3. 2016 | |
| 8 | MMDFS, NFU1 |
| Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. | |
| 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. | |
| Front Genet. Apr 13;6:123. doi: 10.3389/fgene.2015.00123 2015 | |
| 9 | MMDFS, NFU1 |
| Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations | |
| Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I. | |
| Front Genet. Nov 20;5:412. doi: 10.3389/fgene.2014.00412. 2014 | |
| 10 | MMDFS, NFU1 |
| A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins. | |
| 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. | |
| Am J Hum Genet 89(5):656-67. 2011 | |
| 11 | BOLA3, ISCU, MMDFS, MMDS2, NFU1 |
| Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes. | |
| Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. | |
| Am J Hum Genet 89(4):486-95. Epub 2011 Sep 22. 2011 | |
| 12 | NFU1 |
| Iron-sulfur cluster biosynthesis: characterization of a molten globule domain in human NFU. | |
| Liu Y, Cowan JA. | |
| Biochemistry 48(31):7512-8. 2009 | |
| 13 | NFU1 |
| Iron-sulfur cluster biosynthesis: functional characterization of the N- and C-terminal domains of human NFU. | |
| Liu Y, Qi W, Cowan JA. | |
| Biochemistry 48(5):973-80. 2009 | |
| 14 | NFU1 |
| Iron sulfur cluster biosynthesis. Human NFU mediates sulfide delivery to ISU in the final step of [2Fe-2S] cluster assembly. | |
| Liu Y, Cowan JA. | |
| Chem Commun (Camb) (30):3192-4. Epub 2007 Jun 6. 2007 | |
| 15 | EPM2A,EPM2AIP1,NFU1,NHLRC1 |
| Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. | |
| Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. | |
| Hum Mol Genet 13(11):1117-29. Epub 2004 Apr 21. 2004 | |
| 16 | EPM2A,NFU1 |
| The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. | |
| Ganesh S, Tsurutani N, Suzuki T, Ueda K, Agarwala KL, Osada H, Delgado-Escueta AV, Yamakawa K. | |
| Hum Mol Genet 12(18):2359-68. Epub 2003 Jul 29. 2003 | |
| 17 | NFU1 |
| Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster. | |
| Tong WH, Jameson GN, Huynh BH, Rouault TA. | |
| Proc Natl Acad Sci U S A 100(17):9762-7. Epub 2003 Jul 28. 2003 | |
| 18 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR53OS, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |