NMD: a multifaceted response to premature translational termination

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Items 201–300 of 559

1. Schizosaccharomyces pombe centromere protein M is19 links M is16 and M is18 to recruit CENP ‐A through interacting with NMD factors and the SWI / SNF complex
   Takeshi Hayashi, Masahiro Ebe, Koji Nagao, Aya Kokubu, Kenichi Sajiki, Mitsuhiro Yanagida · 2014 · Genes to Cells
2. Quality control of mRNP biogenesis: Networking at the transcription site
   Andrea B. Eberle, Neus Visa · 2014 · Seminars in Cell and Developmental Biology
3. Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates
   Franziska Ottens, Volker Boehm, Christopher R. Sibley, Jernej Ule, Niels H. Gehring · 2017 · RNA
4. Pat1 activates late steps in mRNA decay by multiple mechanisms
   Joseph H. Lobel, Ryan W. Tibble, John D. Gross · 2019 · Proceedings of the National Academy of Sciences
5. Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases
   Hana Benhabiles, Sara Gonzalez-Hilarion, Séverine Amand, Christine Maulay-Bailly, Anne Prévötat, Philippe Reix, D. Hubert, Éric Adriaenssens, Sylvie Rebuffat, David Tulasne et al. · 2017 · PLoS ONE
6. Nonsense-mediated mRNA decay factors cure most [PSI+] prion variants
   Moonil Son, Reed B. Wickner · 2018 · Proceedings of the National Academy of Sciences
7. A robust yeast biocontainment system with two-layered regulation switch dependent on unnatural amino acid
   Tiantian Chang, Weichao Ding, Shirui Yan, Yun Wang, Haoling Zhang, Yu Zhang, Zhi Ping, Huiming Zhang, Yijian Huang, Jiahui Zhang et al. · 2023 · Nature Communications
8. Saccharomyces cerevisiae Ski7 Is a GTP-Binding Protein Adopting the Characteristic Conformation of Active Translational GTPases
   Eva Kowalinski, Anthony P. Schuller, Rachel Green, Elena Conti · 2015 · Structure
9. The pre-mRNA retention and splicing complex controls tRNA maturation by promoting TAN1 expression
   Yang Zhou, Changchun Chen, Marcus Johansson · 2013 · Nucleic Acids Research
10. NMD3 regulates both mRNA and rRNA nuclear export in African trypanosomes via an XPOI-linked pathway
    Melanie Bühlmann, Pegine B. Walrad, Eva Rico, Alasdair C. Ivens, Paul Capewell, Arunasalam Naguleswaran, Isabel J. Roditi, Keith R. Matthews · 2015 · Nucleic Acids Research
11. MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression
    Ling Deng, Li Liao, Yinling Zhang, Shu‐Yuan Hu, Shao‐Ying Yang, Xiao-Yan Ma, Min-Ying Huang, Fang-Lin Zhang, Da‐Qiang Li · 2023 · Cancer Letters
12. Regulatory mechanisms of RNA function: emerging roles of DNA repair enzymes
    Laure Jobert, Hilde Loge Nilsen · 2014 · Cellular and Molecular Life Sciences
13. NMD mechanism and the functions of Upf proteins in plant
    Yiming Dai, Wenli Li, Lijia An · 2015 · Plant Cell Reports
14. Signaling pathways that control mRNA turnover
    Roopa Thapar, Andria P. Denmon · 2013 · Cellular Signalling
15. A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1
    Yi Bessie Liu, Ambika Tewari, Johnny S. Salameh, Elena Arystarkhova, Thomas Hampton, Allison Brashear, Laurie J. Ozelius, Kamran Khodakhah, Kathleen J. Sweadner · 2015 · eLife
16. Characterization of Phosphorylation- and RNA-Dependent UPF1 Interactors by Quantitative Proteomics
    Valentin Flury, Umberto Restuccia, Angela Bachi, Oliver Mühlemann · 2014 · Journal of Proteome Research
17. HTLV-1 Rex Tunes the Cellular Environment Favorable for Viral Replication
    Kazumi Nakano, Toshiki Watanabe · 2016 · Viruses
18. A novel TBX20 loss-of-function mutation contributes to adult-onset dilated cardiomyopathy or congenital atrial septal defect
    Yimeng Zhou, Xiaoyong Dai, Ri‐Tai Huang, Song Xue, Ying‐Jia Xu, Xing‐Biao Qiu, Yi‐Qing Yang · 2016 · Molecular Medicine Reports
19. Modulation of nonsense mediated decay by rapamycin
    Rocío T. Martínez-Nuñez, Andrew Wallace, Doyle Coyne, Linnea I. Jansson, Miles Rush, Hanane Ennajdaoui, Sol J. Katzman, Joanne L. Bailey, Katrin Deinhardt, Tilman Sánchez-Elsner et al. · 2016 · Nucleic Acids Research
20. Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway
    Zhilian Hu, Yang Liu, Michael C. Huarng, Marzia Menegatti, Deepak Reyon, Megan S. Rost, Zachary G. Norris, Catherine E. Richter, Alexandra N. Stapleton, Neil C. Chi et al. · 2017 · Blood
21. The Saccharomyces cerevisiae poly (A) binding protein (Pab1): Master regulator of mRNA metabolism and cell physiology
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22. Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Gräsbeck Syndrome) in Juvenile Beagles
    John C. Fyfe, Shelby L. Hemker, Patrick J. Venta, Brittainy Stebbing, Urs Giger · 2014 · Journal of Veterinary Internal Medicine
23. Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia
    Monica Borgatti, Emiliano Altamura, Francesca Salvatori, Elisabetta D’Aversa, Nicola Altamura · 2020 · Journal of Clinical Medicine
24. Coupled protein synthesis and ribosome-guided piRNA processing on mRNAs
    Yu Huining Sun, Ruoqiao Huiyi Wang, Khai Du, Jiang Zhu, Jihong Zheng, Li Huitong Xie, Amanda A. Pereira, Chao Zhang, Emiliano P. Ricci, Xin Zhiguo Li · 2021 · Nature Communications
25. The SF3B1R625H mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1
    Jing Guo, Chuzhong Li, Qiuyue Fang, Yulou Liu, Dawei Wang, Yiyuan Chen, Weiyan Xie, Yazhuo Zhang · 2022 · Journal of Experimental & Clinical Cancer Research
26. Resistance to ATR Inhibitors Is Mediated by Loss of the Nonsense-Mediated Decay Factor UPF2
    Patrick C. O’Leary, Huadong Chen, Yagmur Umay Doruk, Tess Williamson, Benjamin J. Polacco, Andrew S. McNeal, Tanushree Shenoy, Nupura Kale, Julia C. Carnevale, Erica J. Stevenson et al. · 2022 · Cancer Research
27. Synonymous Codon Usage Affects the Expression of Wild Type and F508del CFTR
    Kalpit Shah, Yi Cheng, Brian Hahn, Robert J. Bridges, Neil A. Bradbury, David M. Mueller · 2015 · Journal of Molecular Biology
28. The feedback control of UPF3 is crucial for RNA surveillance in plants
    Evgeniya Degtiar, Adi Fridman, Dror Gottlieb, Karina Vexler, Irina Berezin, Ronit Farhi, Linoy Golani, Orit Shaul · 2015 · Nucleic Acids Research
29. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs
    John C. Fyfe, Shelby L. Hemker, Patrick J. Venta, Caitlin A. Fitzgerald, Catherine A. Outerbridge, Sherry L. Myers, Urs Giger · 2013 · Molecular Genetics and Metabolism
30. eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants
    Anurag Verma, Shefali S. Verma, Sarah A. Pendergrass, Dana C. Crawford, David R. Crosslin, Helena Kuivaniemi, William S. Bush, Yuki Bradford, Iftikhar J. Kullo, Suzette J. Bielinski et al. · 2016 · BMC Medical Genomics
31. Evolution of Alternative Splicing in Eudicots
    Zhihao Ling, Thomas Brockmöller, Ian Thomas Baldwin, Shuqing Xu · 2019 · Frontiers in Plant Science
32. Yeast Edc3 Targets RPS28B mRNA for Decapping by Binding to a 3′ Untranslated Region Decay-Inducing Regulatory Element
    Feng He, Chunfang Li, Bijoyita Roy, Allan Jacobson · 2014 · Molecular and Cellular Biology
33. Control of mRNA Stability in Fungi by NMD, EJC and CBC Factors Through 3′UTR Introns
    Ying Zhang, Matthew S. Sachs · 2015 · Genetics
34. Regulation of a strongF9cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
    Dario Balestra, Elena Barbon, Daniela Scalet, Nicola Cavallari, Daniela Perrone, Silvia Zanibellato, Francesco Bernardi, Mirko Pinotti · 2015 · Human Molecular Genetics
35. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
    Muhammad Rafiq, Claire S. Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali et al. · 2015 · BMC Medical Genetics
36. In VivoDetermination of Direct Targets of the Nonsense-Mediated Decay Pathway inDrosophila
    Alex Chapin, Hao Hu, Shawn G. Rynearson, Julie Hollien, Mark D. Yandell, Mark M. Metzstein · 2014 · G3 Genes Genomes Genetics
37. Plasmid transfection influences the readout of nonsense-mediated mRNA decay reporter assays in human cells
    Jennifer V. Gerbracht, Volker Boehm, Niels H. Gehring · 2017 · Scientific Reports
38. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse
    M.-C. Beauchamp, Anissa Djedid, Kévin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome‐Majewska · 2019 · PLoS ONE
39. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
    Antonia Felzen, Daan B.E. van Wessel, Emmanuel M. Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Marc Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin et al. · 2022 · JHEP Reports
40. mRNA metabolism and neuronal disease
    Bastian Linder, Utz Fischer, Niels H. Gehring · 2015 · FEBS Letters
41. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
    Maik Engeholm, Julia Sekler, David C. Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell, Thomas Gasser · 2014 · BMC Neurology
42. Novel membrane frizzled‐related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds
    Rosemarie A. Wasmann, Jolien S. Klein Wassink‐Ruiter, Olof H. Sundin, Elisa Morales, Joke B. G. M. Verheij, Jan Willem R. Pott · 2013 · Acta Ophthalmologica
43. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
    Luitgard Margarete Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valérie Cormier‐Daire, Stefan Mundlos, Christian Kubisch et al. · 2013 · European Journal of Human Genetics
44. An Ultraconserved Element (UCE) controls homeostatic splicing of ARGLU1 mRNA
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45. Multifaceted Regulation of Gene Expression by the Apoptosis- and Splicing-Associated Protein Complex and Its Components
    Bhagyashree Deka, Kusum Kumari Singh · 2017 · International Journal of Biological Sciences
46. The Upf Factor Complex Interacts with Aberrant Products Derived from mRNAs Containing a Premature Termination Codon and Facilitates Their Proteasomal Degradation
    Kazushige Kuroha, Koji Ando, Reiko Nakagawa, Toshifumi Inada · 2013 · Journal of Biological Chemistry
47. Redox signaling and splicing dependent change in myosin phosphatase underlie early versus late changes in NO vasodilator reserve in a mouse LPS model of sepsis
    John J. Reho, Xiaoxu Zheng, Laureano D. Asico, Steven A. Fisher · 2015 · American Journal of Physiology-Heart and Circulatory Physiology
48. Arp5 is a key regulator of myocardin in smooth muscle cells
    Tsuyoshi Morita, Ken’ichiro Hayashi · 2014 · The Journal of Cell Biology
49. Phosphorylation of the N ‐ and C ‐terminal UPF 1 domains plays a critical role in plant nonsense‐mediated m RNA decay
    Farkas Kerényi, Izabela Wawer, Pawel J. Sikorski, Joanna Kufel, Dániel Silhavy · 2013 · The Plant Journal
50. The loss of SMG1 causes defects in quality control pathways in Physcomitrella patens
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51. The temporal landscape of recursive splicing during Pol II transcription elongation in human cells
    Xiao-Ou Zhang, Yu Fu, Haiwei Mou, Wen Xue, Zhiping Weng · 2018 · PLoS Genetics
52. dsRNA Sensing During Viral Infection: Lessons from Plants, Worms, Insects, and Mammals
    Isaque J. S. de Faria, Roenick Proveti Olmo, Emanuele Guimarães Silva, João Trindade Marques · 2013 · Journal of Interferon & Cytokine Research
53. Retroviral strategy to stabilize viral RNA
    Bao Lin Quek, KAREN L. BEEMON · 2014 · Current Opinion in Microbiology
54. The barley mutant happy under the sun 1 (hus1): An additional contribution to pale green crops
    Lisa Rotasperti, Luca Tadini, Matteo Chiara, Cristina Crosatti, Davide Guerra, Andrea Tagliani, Sara Forlani, Ignacio Ezquer, David Stephen Horner, Peter Jahns et al. · 2022 · Environmental and Experimental Botany
55. Allelic contribution of Nrxn1α to autism-relevant behavioral phenotypes in mice
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56. Intra- and Intermolecular Regulatory Interactions in Upf1, the RNA Helicase Central to Nonsense-Mediated mRNA Decay in Yeast
    Feng He, Robin Ganesan, Allan Jacobson · 2013 · Molecular and Cellular Biology
57. Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons
    Leslie Matalonga, Ángela Arias, Frederic Tort, Xènia Ferrer-Cortés, Judit García‐Villoria, María Josep Coll, Laura Gort, Antònia Ribes · 2015 · Neurotherapeutics
58. Analysis of aberrant pre‐messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA
    Wendy L. van der Woerd, Johanna Mulder, Franco Pagani, Ulrich H. Beuers, Roderick H.J. Houwen, Stan F.J. van de Graaf · 2014 · Hepatology
59. Genomic tools in acute myeloid leukemia: From the bench to the bedside
    Brian S. White, John F. DiPersio · 2014 · Cancer
60. DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells
    Jung-Yeon Lim, Sascha H. C. Duttke, Turner S. Baker, Jihye Lee, Kristyne J. Gambino, Nicholas James Venturini, Jessica Ho, Simin Zheng, Yesai S. Fstkchyan, Vinodh Pillai et al. · 2021 · The Journal of Experimental Medicine
61. Nonsense suppression therapies in ocular genetic diseases
    Xia Wang, Cheryl Y. Gregory · 2015 · Cellular and Molecular Life Sciences
62. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
    Kamal Khan, Michael Zech, Angela Tamsin Morgan, David J. Amor, Matěj Škorvánek, Tahir Naeem Khan, Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, Matthew Coleman et al. · 2019 · Genetics in Medicine
63. Mechanisms and Regulation of Nonsense-Mediated mRNA Decay and Nonsense-Associated Altered Splicing in Lymphocytes
    Jean-Marie Lambert, Mohamad Omar Ashi, Nivine Srour, Laurent Delpy, Jérôme Saulière · 2020 · International Journal of Molecular Sciences
64. Alternative Messenger RNA Splicing of Autophagic Gene Beclin 1 in Human B-cell Acute Lymphoblastic Leukemia Cells
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65. A Highly Conserved Region Essential for NMD in the Upf2 N-Terminal Domain
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66. A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
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67. Pervasive changes of mRNA splicing in upf1 -deficient zebrafish identify rpl10a as a regulator of T cell development
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68. CTCF/RAD21 organize the ground state of chromatin–nuclear speckle association
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69. A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
    Zuzana Mušová, Michaela Kaiserová, Eva Kriegová, Regina Fillerová, Peter Vasovčák, A Santavá, Kateřina Menšíková, Alena Zumrová, Anna Křepelová, Zdeněk Sedláček et al. · 2013 · The Cerebellum
70. New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema
    Nathália Cagini, Camila Lopes Veronez, Rosemeire Navickas Constantino-Silva, M. Buzolin, Renan Paulo Martin, Anete Sevciovic Grumach, Licio Augusto Velloso, Eli Mansour, João Bosco Pesquero · 2016 · Biological Chemistry
71. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
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72. RNA Regulation in Plant Cold Stress Response
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73. Functional conservation of EXA1 among diverse plant species for the infection by a family of plant viruses
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74. Jasmonate induced alternative splicing responses in Arabidopsis
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75. Emerging mechanisms of mRNP remodeling regulation
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76. Promoter architecture determines cotranslational regulation of mRNA
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77. Dual roles of DNA repair enzymes in RNA biology/post‐transcriptional control
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78. Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins
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79. CCGG deletion (rs201074739) in CD33 results in premature termination codon and complete loss of CD33 expression: another key variant with potential impact on response to CD33-directed agents
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80. Alternative splicing coupled with transcript degradation modulates OAS1g antiviral activity
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81. Biological and clinical significance of epigenetic silencing of MARVELD1 gene in lung cancer
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82. P 1/ P 2 genotyping of known and novel null alleles in the P 1 PK and GLOB histo‐blood group systems
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83. Directed hydroxyl radical probing reveals Upf1 binding to the 80S ribosomal E site rRNA at the L1 stalk
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84. Novel Correctors and Potentiators Enhance Translational Readthrough in CFTR Nonsense Mutations
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85. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
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86. RNA Metabolism Guided by RNA Modifications: The Role of SMUG1 in rRNA Quality Control
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87. NMD: Nonsense-Mediated Defense
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88. Nonsense-mediated decay regulates key components of homologous recombination
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89. ENCoRE: an efficient software for CRISPR screens identifies new players in extrinsic apoptosis
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90. A common class of transcripts with 5′-intron depletion, distinct early coding sequence features, and N 1 -methyladenosine modification
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91. Inhibition of post-termination ribosome recycling at premature termination codons in UPF1 ATPase mutants
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92. Collaboration of tRNA modifications and elongation factor eEF1A in decoding and nonsense suppression
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93. Nonsense-mediated mRNA decay pathway in plants under stress: general gene regulatory mechanism and advances
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94. SRSF6 modulates histone-chaperone HIRA splicing to orchestrate AR and E2F activity in prostate cancer
    Antonio J. Montero‐Hidalgo, Juan M. Jiménez‐Vacas, Enrique Gómez‐Gómez, Francisco Porcel-Pastrana, Prudencio Sáez-Martínez, Jesús M. Pérez‐Gómez, Antonio C. Fuentes-Fayos, Ricardo Blázquez‐Encinas, Rafael Sánchez‐Sánchez, Teresa González-Serrano et al. · 2024 · Science Advances
95. A common phytoene synthase mutation underlies white petal varieties of the California poppy
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96. SMG6 Cleavage Generates Metastable Decay Intermediates from Nonsense-Containing β-Globin mRNA
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97. The human ribosome can interact with the abasic site in mRNA via a specific peptide of the uS3 protein located near the mRNA entry channel
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98. Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
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99. Chikungunya virus superinfection exclusion is mediated by a block in viral replication and does not rely on non-structural protein 2
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100. eEF2 diphthamide modification restrains spurious frameshifting to maintain translational fidelity
     Byung‐Sik Shin, Ivaylo P. Ivanov, Joo-Ran Kim, Chune Cao, Terri Goss Kinzy, Thomas E. Dever · 2023 · Nucleic Acids Research