Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

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Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7

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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

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WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

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KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

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Crystal structures of the Gon7/Pcc1 and Bud32/Cgi121 complexes provide a model for the complete yeast KEOPS complex

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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

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Comparison of T7E1 and Surveyor Mismatch Cleavage Assays to Detect Mutations Triggered by Engineered Nucleases

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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

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A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

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The Arp2/3 complex is required for lamellipodia extension and directional fibroblast cell migration

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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

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The Human EKC/KEOPS Complex Is Recruited to Cullin2 Ubiquitin Ligases by the Human Tumour Antigen PRAME

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A role for the universal Kae1/Qri7/YgjD (COG0533) family in tRNA modification

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Gcn4 misregulation reveals a direct role for the evolutionary conserved EKC/KEOPS in the t6A modification of tRNAs

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A Chemosensitization Screen Identifies TP53RK, a Kinase that Restrains Apoptosis after Mitotic Stress

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The highly conserved KEOPS/EKC complex is essential for a universal tRNA modification, t6A

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Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

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Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

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Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance

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Structure of the archaeal Kae1/Bud32 fusion protein MJ1130: a model for the eukaryotic EKC/KEOPS subcomplex

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Atomic Structure of the KEOPS Complex: An Ancient Protein Kinase-Containing Molecular Machine

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