Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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Jeremy F. P. Ullmann | Sebastian A. Leidel | E. Roeder | P. Gaffney | S. Leidel | B. Menten | T. Shiihara | B. Behnam | N. Boddaert | J. Ullmann | E. Lemyre | D. Magen | Shrikant Mane | R. Lifton | M. Bouchard | P. Revy | D. Chitayat | G. Mollet | O. Gribouval | C. Antignac | H. van Tilbeurgh | H. Tilbeurgh | P. Gipson | C. Kiraly-Borri | K. Wierenga | P. Rump | F. Hildebrandt | M. Wolf | S. Ashraf | D. Viskochil | R. Schnur | B. Collinet | M. Zenker | R. Topaloğlu | Tobias Hermle | P. Dedon | Kazuyuki Nakamura | A. Poduri | I. Guerrera | T. Basta | A. Masri | C. Prasad | N. de Rocker | B. Callewaert | M. Sinha | Shuan-Pei Lin | N. Soliman | S. Wong | S. Vergult | H. Gee | Oraly Sanchez-Ferras | J. Kari | M. Cho | A. Begtrup | Ankana Daga | Jia Rao | D. Sweetser | D. Liger | Jillian K. Warejko | Weizhen Tan | D. Schapiro | Jennifer A. Lawson | S. Lovric | Tilman Jobst-Schwan | C. E. Sadowski | F. Ozaltin | D. Braun | D. Schanze | U. Vester | Chyong-hsin Hsu | Jui-Hsing Chang | M. Praet | K. Scharmann | Gessica Truglio | M. Daugeron | J. Tsai | V. Matejas | P. Kannu | Jessica L. Waxler | O. Boyer | N. Vatanavicharn | Chao-Huei Chen | M. Moghtaderi | Wen-Hui Tsai | M. Bruce | Y. Ke | Gaëlle Martin | Charlotte A. Hoogstraten | J. Schmidt | M. Furlano | Anne-Claire Boschat | S. Sanquer | Merlin Airik | G. Ch'ng | W. Lai | W. Choi | K. Soulami | A. Prytuła | E. Widmeier | Sandra D. Kienast | R.O. Littlejohn | Jennifer F Hu | S. Shril | N. D. Rocker | B. Beeson | Werner L. Pabst | Charlotte A Hoogstraten | Won-Il Choi | Neveen A. Soliman | Jennifer F. Hu | Elizabeth R. Roeder | Manish D. Sinha | Amber Begtrup | C. Antignac | M. T. Wolf | Verena Matejas | Babak Behnam | Shuan-pei Lin | O. Boyer | Patrick Revy | Jeremy F.P. Ullmann | Nathalie Boddaert | G. Martin | M. Furlano | I. C. Guerrera | Jennifer Hu | Sylvia Sanquer | Jui Hsing Chang | Chao Huei Chen | Patrick E. Gipson | Y. Ke | Wai Ming Lai | Wen Hui Tsai | David Viskochil | Sik Nin Wong | S. A. Leidel | F. Ozaltın
[1] V. Crécy-Lagard,et al. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy , 2017, European Journal of Human Genetics.
[2] A. Gingras,et al. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7 , 2016, Nucleic Acids Research.
[3] M. Helm,et al. Analysis of RNA modifications by liquid chromatography-tandem mass spectrometry. , 2016, Methods.
[4] I. Guerrera,et al. Sensitivity of mass spectrometry analysis depends on the shape of the filtration unit used for filter aided sample preparation (FASP) , 2016, Proteomics.
[5] Marco Y. Hein,et al. The Perseus computational platform for comprehensive analysis of (prote)omics data , 2016, Nature Methods.
[6] V. de Crécy-Lagard,et al. Global translational impacts of the loss of the tRNA modification t6A in yeast , 2015, Microbial cell.
[7] L. Hood,et al. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 , 2015, Nature Communications.
[8] Sebastian A. Leidel,et al. A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis. , 2015, Developmental cell.
[9] D. Prayer,et al. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease , 2015, Human mutation.
[10] Sebastian A. Leidel,et al. Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity , 2015, Cell.
[11] M. Hurles,et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 , 2015, Brain : a journal of neurology.
[12] Margaret Y. Nettleton,et al. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. , 2015, The Journal of clinical investigation.
[13] S. Engelmann,et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. , 2015, Journal of the American Society of Nephrology : JASN.
[14] Michael J E Sternberg,et al. The Phyre2 web portal for protein modeling, prediction and analysis , 2015, Nature Protocols.
[15] M. Graille,et al. Crystal structures of the Gon7/Pcc1 and Bud32/Cgi121 complexes provide a model for the complete yeast KEOPS complex , 2015, Nucleic acids research.
[16] N. Pollet,et al. Comparison of T7E1 and Surveyor Mismatch Cleavage Assays to Detect Mutations Triggered by Engineered Nucleases , 2015, G3: Genes, Genomes, Genetics.
[17] N. Boddaert,et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. , 2014, American Journal of Human Genetics.
[18] B. van Steensel,et al. Easy quantitative assessment of genome editing by sequence trace decomposition , 2014, Nucleic acids research.
[19] Tessa G. Montague,et al. Efficient Mutagenesis by Cas9 Protein-Mediated Oligonucleotide Insertion and Large-Scale Assessment of Single-Guide RNAs , 2014, PloS one.
[20] George M. Church,et al. CHOPCHOP: a CRISPR/Cas9 and TALEN web tool for genome editing , 2014, Nucleic Acids Res..
[21] D. G. MacArthur,et al. Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.
[22] J. Keith Joung,et al. Improving CRISPR-Cas nuclease specificity using truncated guide RNAs , 2014, Nature Biotechnology.
[23] A. Paterson,et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. , 2013, The Journal of clinical investigation.
[24] S. Levy,et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. , 2013, The Journal of clinical investigation.
[25] F. Hildebrandt,et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy , 2013, Human Genetics.
[26] V. Plagnol,et al. Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita , 2013, American journal of human genetics.
[27] H. Omran,et al. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing , 2012, Journal of Medical Genetics.
[28] H. Stunnenberg,et al. The Human EKC/KEOPS Complex Is Recruited to Cullin2 Ubiquitin Ligases by the Human Tumour Antigen PRAME , 2012, PloS one.
[29] L. Foster,et al. A high-throughput approach for measuring temporal changes in the interactome , 2012, Nature Methods.
[30] Corinne Stoetzel,et al. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling , 2012, Cell.
[31] Dorit Hanein,et al. The Arp2/3 complex is required for lamellipodia extension and directional fibroblast cell migration , 2012, The Journal of cell biology.
[32] T. Lenstra,et al. Gcn4 misregulation reveals a direct role for the evolutionary conserved EKC/KEOPS in the t6A modification of tRNAs , 2011, Nucleic acids research.
[33] E. Koonin,et al. The highly conserved KEOPS/EKC complex is essential for a universal tRNA modification, t6A , 2011, The EMBO journal.
[34] Tamer Kahveci,et al. A role for the universal Kae1/Qri7/YgjD (COG0533) family in tRNA modification , 2011, The EMBO journal.
[35] David P. Davis,et al. A chemosensitization screen identifies TP53RK, a kinase that restrains apoptosis after mitotic stress. , 2010, Cancer research.
[36] A. Fischer,et al. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome , 2010, Proceedings of the National Academy of Sciences.
[37] P. Forterre,et al. Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance , 2009, Nucleic acids research.
[38] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[39] Peter Nürnberg,et al. HomozygosityMapper—an interactive approach to homozygosity mapping , 2009, Nucleic Acids Res..
[40] F. Hildebrandt,et al. Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. , 2009, Kidney international.
[41] P. Forterre,et al. The universal Kae1 protein and the associated Bud32 kinase (PRPK), a mysterious protein couple probably essential for genome maintenance in Archaea and Eukarya. , 2009, Biochemical Society transactions.
[42] Peter Nürnberg,et al. A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations , 2009, PLoS genetics.
[43] M. Mann,et al. MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification , 2008, Nature Biotechnology.
[44] D. Durocher,et al. Atomic structure of the KEOPS complex: an ancient protein kinase-containing molecular machine. , 2008, Molecular cell.
[45] P. Forterre,et al. Structure of the archaeal Kae1/Bud32 fusion protein MJ1130: a model for the eukaryotic EKC/KEOPS subcomplex , 2008, The EMBO journal.
[46] P. Jeggo,et al. The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders. , 2008, DNA repair.
[47] William C Earnshaw,et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling , 2008, Nature Genetics.
[48] N. Trede,et al. Method for isolation of PCR-ready genomic DNA from zebrafish tissues. , 2007, BioTechniques.
[49] K. Asanuma,et al. Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton. , 2007, Trends in cell biology.
[50] K. Hofmann,et al. Yeast homolog of a cancer‐testis antigen defines a new transcription complex , 2006, The EMBO journal.
[51] David Lydall,et al. A Genome-Wide Screen Identifies the Evolutionarily Conserved KEOPS Complex as a Telomere Regulator , 2006, Cell.
[52] Randal J. Kaufman,et al. Divergent Roles of IRE1α and PERK in the Unfolded Protein Response , 2006 .
[53] L. Holzman,et al. Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene. , 2005, Journal of the American Society of Nephrology : JASN.
[54] A. Bakkaloğlu,et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. , 2004, Journal of the American Society of Nephrology : JASN.
[55] Judith A. Goodship,et al. A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome , 2003, Nature Genetics.
[56] P. Agris,et al. Accurate Translation of the Genetic Code Depends on tRNA Modified Nucleosides* , 2002, The Journal of Biological Chemistry.
[57] M. O'hare,et al. A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. , 2002, Journal of the American Society of Nephrology : JASN.
[58] R. Kaufman,et al. Divergent roles of IRE1alpha and PERK in the unfolded protein response. , 2006, Current molecular medicine.