A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

[1]  R. Pearson,et al.  Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy , 2021, Signal Transduction and Targeted Therapy.

[2]  R. Pfundt,et al.  De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus. , 2020, Human molecular genetics.

[3]  C. Cytrynbaum,et al.  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. , 2020, American journal of human genetics.

[4]  S. Nelson,et al.  The frontiers of sequencing in undiagnosed neurodevelopmental diseases. , 2020, Current opinion in genetics & development.

[5]  U. Brinkmann,et al.  Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy , 2020, European Journal of Human Genetics.

[6]  K. Ueda,et al.  ADP-ribosylation. , 2020, Annual review of biochemistry.

[7]  U. Brinkmann,et al.  DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients , 2020, European Journal of Human Genetics.

[8]  M. Kimura,et al.  Diphthamide modification of eEF2 is required for gut tumor‐like hyperplasia induced by oncogenic Ras , 2019, Genes to cells : devoted to molecular & cellular mechanisms.

[9]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[10]  B. Coe,et al.  Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes , 2018, Genetics in Medicine.

[11]  U. Brinkmann,et al.  Importance of diphthamide modified EF2 for translational accuracy and competitive cell growth in yeast , 2018, PloS one.

[12]  Angeliki Pantazi,et al.  An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery , 2018, npj Genomic Medicine.

[13]  Johanna Hörberg,et al.  QM/MM Studies of Dph5 - A Promiscuous Methyltransferase in the Eukaryotic Biosynthetic Pathway of Diphthamide , 2018, J. Chem. Inf. Model..

[14]  A. Takata,et al.  A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features , 2018, Journal of Human Genetics.

[15]  F. Alkuraya,et al.  The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes , 2017, Human Genetics.

[16]  Devin P. Sullivan,et al.  A subcellular map of the human proteome , 2017, Science.

[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]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[19]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[20]  E. Puffenberger,et al.  Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies , 2015, Human mutation.

[21]  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.

[22]  Mohamed Abouelhoda,et al.  Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. , 2015, Cell reports.

[23]  Xuan Yuan,et al.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.

[24]  M. Stark,et al.  The diphthamide modification pathway from Saccharomyces cerevisiae – revisited , 2014, Molecular microbiology.

[25]  Gert Vriend,et al.  YASARA View—molecular graphics for all devices—from smartphones to workstations , 2014, Bioinform..

[26]  L. Vissers,et al.  Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.

[27]  Hening Lin,et al.  The biosynthesis and biological function of diphthamide , 2013, Critical reviews in biochemistry and molecular biology.

[28]  Ceri H. Davies,et al.  Neurodevelopmental disorders , 2013, Neuropharmacology.

[29]  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.

[30]  Carla P. Guimarães,et al.  Haploid Genetic Screens in Human Cells Identify Host Factors Used by Pathogens , 2009, Science.

[31]  R. Schneiter,et al.  A two‐step method for the introduction of single or multiple defined point mutations into the genome of Saccharomyces cerevisiae , 2006, Yeast.

[32]  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.

[33]  J. Hegemann,et al.  A second set of loxP marker cassettes for Cre-mediated multiple gene knockouts in budding yeast. , 2002, Nucleic acids research.

[34]  Division on Earth.  Guide for the Care and Use of Laboratory Animals , 1996 .

[35]  R. Collier,et al.  DPH5, a methyltransferase gene required for diphthamide biosynthesis in Saccharomyces cerevisiae , 1992, Molecular and cellular biology.

[36]  Y. Kaneda,et al.  Chromosomal assignment of the gene for human elongation factor 2. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[37]  J. Bodley,et al.  Biosynthetic labeling of diphthamide in Saccharomyces cerevisiae. , 1983, The Journal of biological chemistry.

[38]  J. Bodley,et al.  Occurrence of diphthamide in archaebacteria , 1983, Journal of bacteriology.

[39]  J. Howard,et al.  ADP-ribosylation of elongation factor 2 by diphtheria toxin. Isolation and properties of the novel ribosyl-amino acid and its hydrolysis products. , 1980, The Journal of biological chemistry.