Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy
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U. Brinkmann | B. Mendelsohn | S. Tuupanen | R. Schaffrath | Bryce A. Mendelsohn | Klaus Mayer | J. Schleit | Amit Malhotra | Harmen Hawer | A. Kung
[1] S. Baserga,et al. Ribosomopathies: Old Concepts, New Controversies. , 2019, Trends in genetics : TIG.
[2] J. Freed,et al. The asymmetric function of Dph1–Dph2 heterodimer in diphthamide biosynthesis , 2019, JBIC Journal of Biological Inorganic Chemistry.
[3] Rajesh Poothrikovil,et al. Nonketotic Hyperglycinemia: Two Case Reports and Review , 2019, The Neurodiagnostic journal.
[4] Médecine,et al. Diamond-Blackfan Anemia , 2019, Clinical Disorders and Experimental Models of Erythropoietic Failure.
[5] U. Brinkmann,et al. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients , 2019, European Journal of Human Genetics.
[6] S. Glatt,et al. Roles of Elongator Dependent tRNA Modification Pathways in Neurodegeneration and Cancer , 2018, Genes.
[7] B. Shin,et al. MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2 , 2018, Nucleic acids research.
[8] V. Bezzerri,et al. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives , 2018, Molecular Diagnosis & Therapy.
[9] U. Brinkmann,et al. Importance of diphthamide modified EF2 for translational accuracy and competitive cell growth in yeast , 2018, PloS one.
[10] I. Pastan,et al. Diphthamide affects selenoprotein expression: Diphthamide deficiency reduces selenocysteine incorporation, decreases selenite sensitivity and pre-disposes to oxidative stress , 2018, Redox biology.
[11] I. Pastan,et al. Interplay between reversible phosphorylation and irreversible ADP-ribosylation of eukaryotic translation elongation factor 2 , 2018, Biological chemistry.
[12] M. Miura,et al. The hidden nature of protein translational control by diphthamide: the secrets under the leather. , 2018, Journal of biochemistry.
[13] M. Yusupov,et al. Structural Insights into the Role of Diphthamide on Elongation Factor 2 in mRNA Reading-Frame Maintenance. , 2018, Journal of molecular biology.
[14] L. Nguyen,et al. Elongator subunit 3 (ELP3) modifies ALS through tRNA modification , 2018, Human molecular genetics.
[15] U. Brinkmann,et al. Disruption of diphthamide synthesis genes and resulting toxin resistance as a robust technology for quantifying and optimizing CRISPR/Cas9-mediated gene editing , 2017, Scientific Reports.
[16] P. Blackburn,et al. Maple syrup urine disease: mechanisms and management , 2017, The application of clinical genetics.
[17] U. Brinkmann,et al. Influence of DPH1 and DPH5 Protein Variants on the Synthesis of Diphthamide, the Target of ADP-Ribosylating Toxins , 2017, Toxins.
[18] S. Antonarakis,et al. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree , 2016, Human Genomics.
[19] S. Ferdinandusse,et al. Human disorders of peroxisome metabolism and biogenesis. , 2016, Biochimica et biophysica acta.
[20] Wen J. Li,et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation , 2015, Nucleic Acids Res..
[21] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[22] I. Pastan,et al. Loss of diphthamide pre-activates NF-κB and death receptor pathways and renders MCF7 cells hypersensitive to tumor necrosis factor , 2015, Proceedings of the National Academy of Sciences.
[23] A. Fatemi,et al. ELP2 is a novel gene implicated in neurodevelopmental disabilities , 2015, American journal of medical genetics. Part A.
[24] Michael J E Sternberg,et al. The Phyre2 web portal for protein modeling, prediction and analysis , 2015, Nature Protocols.
[25] M. Stark,et al. The diphthamide modification pathway from Saccharomyces cerevisiae – revisited , 2014, Molecular microbiology.
[26] A. Byström,et al. Familial dysautonomia (FD) patients have reduced levels of the modified wobble nucleoside mcm(5)s(2)U in tRNA. , 2014, Biochemical and biophysical research communications.
[27] Chun-Ming Chen,et al. Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome. , 2014, Human molecular genetics.
[28] Hening Lin,et al. Dph7 Catalyzes a Previously Unknown Demethylation Step in Diphthamide Biosynthesis , 2014, Journal of the American Chemical Society.
[29] J. Freed,et al. Dph3 Is an Electron Donor for Dph1-Dph2 in the First Step of Eukaryotic Diphthamide Biosynthesis , 2014, Journal of the American Chemical Society.
[30] J. Lethor,et al. Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. , 2013, International journal of cardiology.
[31] M. Stark,et al. Insights into Diphthamide, Key Diphtheria Toxin Effector , 2013, Toxins.
[32] I. Pastan,et al. A Modified Form of Diphthamide Causes Immunotoxin Resistance in a Lymphoma Cell Line with a Deletion of the WDR85 Gene* , 2013, The Journal of Biological Chemistry.
[33] F. Giorgini,et al. The Amidation Step of Diphthamide Biosynthesis in Yeast Requires DPH6, a Gene Identified through Mining the DPH1-DPH5 Interaction Network , 2013, PLoS genetics.
[34] S. Leppla,et al. Diphthamide modification on eukaryotic elongation factor 2 is needed to assure fidelity of mRNA translation and mouse development , 2012, Proceedings of the National Academy of Sciences.
[35] A. Davies,et al. Regulation of neural process growth, elaboration and structural plasticity by NF-κB , 2011, Trends in Neurosciences.
[36] M. Caruso,et al. A Dominant-Negative Approach That Prevents Diphthamide Formation Confers Resistance to Pseudomonas Exotoxin A and Diphtheria Toxin , 2010, PloS one.
[37] Hening Lin,et al. Diphthamide biosynthesis requires an organic radical generated by an iron–sulphur enzyme , 2010, Nature.
[38] K. Entian,et al. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. , 2009, American journal of human genetics.
[39] M. Stark,et al. A versatile partner of eukaryotic protein complexes that is involved in multiple biological processes: Kti11/Dph3 , 2008, Molecular microbiology.
[40] T. Kinzy,et al. Translation Elongation Factor 2 Anticodon Mimicry Domain Mutants Affect Fidelity and Diphtheria Toxin Resistance* , 2006, Journal of Biological Chemistry.
[41] A. Kulkarni,et al. Dph3, a Small Protein Required for Diphthamide Biosynthesis, Is Essential in Mouse Development , 2006, Molecular and Cellular Biology.
[42] R. Behringer,et al. OVCA1: tumor suppressor gene. , 2005, Current opinion in genetics & development.
[43] G. Fink,et al. Identification of the Proteins Required for Biosynthesis of Diphthamide, the Target of Bacterial ADP-Ribosylating Toxins on Translation Elongation Factor 2 , 2004, Molecular and Cellular Biology.
[44] R. Behringer,et al. Ovca1 regulates cell proliferation, embryonic development, and tumorigenesis. , 2004, Genes & development.
[45] K Nasmyth,et al. Identification of Subunits of the Anaphase-Promoting Complex of Saccharomyces cerevisiae , 1996, Science.
[46] M. M. Bradford. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. , 1976, Analytical biochemistry.
[47] U. K. Laemmli,et al. Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4 , 1970, Nature.
[48] Francesca Storici,et al. The delitto perfetto approach to in vivo site-directed mutagenesis and chromosome rearrangements with synthetic oligonucleotides in yeast. , 2006, Methods in enzymology.
[49] W. McLaren,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .