| In this work, the structure of the human mitochondrial ACP-ISD11 heterodimer was determined at 2.0 A resolution. | Structure of the Human ACP-ISD11 Heterodimer.
Herrera MG, Noguera ME, Sewell KE, Agudelo Suárez WA, Capece L, Klinke S, Santos J. | 07/4/2020 |
| The molecular structure of the human mitochondrial cysteine desulfurase complex consisting of two copies each of NFS1, ISD11, and acyl carrier protein has been described. | Architectural Features of Human Mitochondrial Cysteine Desulfurase Complexes from Crosslinking Mass Spectrometry and Small-Angle X-Ray Scattering.
Cai K, Frederick RO, Dashti H, Markley JL., Free PMC Article | 08/10/2019 |
| analysis of the NFS1-ISD11-ACP (SDA) complex forms the core of the iron-sulfur (Fe-S) assembly complex and associates with assembly proteins ISCU2, frataxin (FXN), and ferredoxin to synthesize Fe-S clusters | Structure of human Fe-S assembly subcomplex reveals unexpected cysteine desulfurase architecture and acyl-ACP-ISD11 interactions.
Cory SA, Van Vranken JG, Brignole EJ, Patra S, Winge DR, Drennan CL, Rutter J, Barondeau DP., Free PMC Article | 06/9/2018 |
| Human Isd11 (ISD11) is a helical protein which exists in solution as an equilibrium between monomer, dimeric and tetrameric species when in the absence of human Nfs1 (NFS1). Recombinant ISD11 expressed in E. coli co-purifies with the bacterial orthologue of NFS1, IscS. | The Eukaryotic-Specific ISD11 Is a Complex-Orphan Protein with Ability to Bind the Prokaryotic IscS.
Yan R, Friemel M, Aloisi C, Huynen M, Taylor IA, Leimkühler S, Pastore A., Free PMC Article | 07/29/2017 |
| The NFS1/ISD11 complex further interacts with scaffold protein ISCU and regulator protein frataxin, thereby forming a quaternary complex for Fe-S cluster formation. | The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1.
Friemel M, Marelja Z, Li K, Leimkühler S. | 06/3/2017 |
| Molecular dynamics flexible fitting of protein structures docked into the EM map of the model revealed a [FXN(42-210)]24.[NFS1]24.[ISD11]24.[ISCU]24 complex, consistent with the measured 1:1:1:1 stoichiometry of its four components. | Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery.
Gakh O, Ranatunga W, Smith DY 4th, Ahlgren EC, Al-Karadaghi S, Thompson JR, Isaya G., Free PMC Article | 05/20/2017 |
| Our findings highlight that the ISD11 R68A/R68L mutation display reduced affinity to form a stable subcomplex with NFS1, and thereby fails to prevent NFS1 aggregation resulting in impairment of the Fe-S cluster biogenesis | Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19.
Saha PP, Srivastava S, Kumar S K P, Sinha D, D'Silva P., Free PMC Article | 02/27/2016 |
| Homozygous mutation in LYRM4 was reported in two patients with combined oxidative phosphorylation deficiency. | Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG., Free PMC Article | 06/7/2014 |
| LYRM4 downregulation may be one of the mechanisms involved in inefficient oxidative phosphorylation and oxidative stress, increasingly recognised as contributors to schizophrenia pathogenesis. | Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia.
Jablensky A, Angelicheva D, Donohoe GJ, Cruickshank M, Azmanov DN, Morris DW, McRae A, Weickert CS, Carter KW, Chandler D, Alexandrov B, Usheva A, Morar B, Verbrugghe PL, Filipovska A, Rackham O, Bishop AR, Rasmussen KØ, Dragovic M, Cooper M, Phillips M, Badcock J, Bramon-Bosch E, Almeida OP, Flicker L, Gill M, Corvin A, MacGregor S, Kalaydjieva L. | 05/11/2013 |
| Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK., Free PMC Article | 03/23/2012 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.
Cleynen I, Mahachie John JM, Henckaerts L, Van Moerkercke W, Rutgeerts P, Van Steen K, Vermeire S., Free PMC Article | 12/5/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| ISD11 is important in the biogenesis of Fe-S clusters in mammalian cells. | Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis.
Shi Y, Ghosh MC, Tong WH, Rouault TA., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (7) articlesEvidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
Laukens D, Georges M, Libioulle C, Sandor C, Mni M, Vander Cruyssen B, Peeters H, Elewaut D, De Vos M. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.
Törkvist L, Halfvarson J, Ong RT, Lördal M, Sjöqvist U, Bresso F, Björk J, Befrits R, Löfberg R, Blom J, Carlson M, Padyukov L, D'Amato M, Seielstad M, Pettersson S. Genetic risk profiling and prediction of disease course in Crohn's disease patients.
Henckaerts L, Van Steen K, Verstreken I, Cleynen I, Franke A, Schreiber S, Rutgeerts P, Vermeire S. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.
Weersma RK, Stokkers PC, Cleynen I, Wolfkamp SC, Henckaerts L, Schreiber S, Dijkstra G, Franke A, Nolte IM, Rutgeerts P, Wijmenga C, Vermeire S. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M, Fisher SA, Gwilliam R, Jacob J, Nimmo ER, Drummond H, Lees CW, Onnie CM, Hanson C, Blaszczyk K, Ravindrarajah R, Hunt S, Varma D, Hammond N, Lewis G, Attlesey H, Watkins N, Ouwehand W, Strachan D, McArdle W, Lewis CM, Wellcome Trust Case Control Consortium, Lobo A, Sanderson J, Jewell DP, Deloukas P, Mansfield JC, Mathew CG, Satsangi J, Parkes M. | 01/11/2009 |
| Frataxin interacts with ISD11 and multiple mitochondrial chaperones. | Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Shan Y, Napoli E, Cortopassi G. | 01/21/2010 |