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Altered Sumoylation of p63α Contributes to the Split-Hand/Foot Malformation Phenotype

Pages 1587-1596 | Published online: 07 Oct 2004

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Sonia Melino, Alessia Bellomaria, Ridvan Nepravishta, Maurizio Paci & Gerry Melino. (2014) p63 threonine phosphorylation signals the interaction with the WW domain of the E3 ligase Itch. Cell Cycle 13:20, pages 3207-3217.
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Yiping Huang, Jun Seop Jeong, Jun Okamura, Myoung Sook-Kim, Heng Zhu, Rafael Guerrero-Preston & Edward A. Ratovitski. (2012) Global tumor protein p53/p63 interactome. Cell Cycle 11:12, pages 2367-2379.
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Yingchun Li, Melissa J. Peart & Carol Prives. (2009) Stxbp4 Regulates ΔNp63 Stability by Suppression of RACK1-Dependent Degradation. Molecular and Cellular Biology 29:14, pages 3953-3963.
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Kensuke Suga, Akira Suto, Shigeru Tanaka, Yutaka Sugawara, Takahiro Kageyama, Junichi Ishikawa, Yoshie Sanayama, Kei Ikeda, Shunsuke Furuta, Shin-Ichiro Kagami, Arifumi Iwata, Koichi Hirose, Kotaro Suzuki, Osamu Ohara & Hiroshi Nakajima. (2023) TAp63, a methotrexate target in CD4+ T cells, suppresses Foxp3 expression and exacerbates autoimmune arthritis. JCI Insight 8:10.
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Christian Osterburg, Marco Ferniani, Dario Antonini, Ann-Sophie Frombach, Ludovica D’Auria, Susanne Osterburg, Rebecca Lotz, Frank Löhr, Sebastian Kehrloesser, Huiqing Zhou, Caterina Missero & Volker Dötsch. (2023) Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree. Cell Death & Disease 14:4.
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Guus J. J. E. Heynen, Francis Baumgartner, Michael Heider, Upayan Patra, Maximilian Holz, Jan Braune, Melanie Kaiser, Isabell Schäffer, Stefanos A. Bamopoulos, Evelyn Ramberger, Arunima Murgai, Yuen Lam Dora Ng, Uta Margareta Demel, Dominik Laue, Sven Liebig, Josefine Krüger, Martin Janz, Axel Nogai, Markus Schick, Philipp Mertins, Stefan Müller, Florian Bassermann, Jan Krönke, Ulrich Keller & Matthias Wirth. (2023) SUMOylation inhibition overcomes proteasome inhibitor resistance in multiple myeloma. Blood Advances 7:4, pages 469-481.
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Huadie Liu, Sonya E. L. Craig, Vladimir Molchanov, Joseph S. Floramo, Yaguang Zhao & Tao Yang. (2022) SUMOylation in Skeletal Development, Homeostasis, and Disease. Cells 11:17, pages 2710.
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Rosalba Pecorari, Francesca Bernassola, Gerry Melino & Eleonora Candi. (2022) Distinct interactors define the p63 transcriptional signature in epithelial development or cancer. Biochemical Journal 479:12, pages 1375-1392.
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Christian Osterburg & Volker Dötsch. (2022) Structural diversity of p63 and p73 isoforms. Cell Death & Differentiation 29:5, pages 921-937.
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Zuzana Pokorná, Jan Vysloužil, Václav Hrabal, Borˇivoj Vojtěšek & Philip J Coates. (2021) The foggy world(s) of p63 isoform regulation in normal cells and cancer. The Journal of Pathology 254:4, pages 454-473.
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Julian M. Rozenberg, Olga S. Rogovaya, Gerry Melino, Nickolai A. Barlev & Alexander Kagansky. (2020) Distinct p63 and p73 Protein Interactions Predict Specific Functions in mRNA Splicing and Polyploidy Control in Epithelia. Cells 10:1, pages 25.
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Gretchen L. Bentz, Angela J. Lowrey, Dustin C. Horne, Vy Nguyen, Austin R. Satterfield, Tabithia D. Ross, Abigail E. Harrod, Olga N. Uchakina & Robert J. McKallip. (2019) Using glycyrrhizic acid to target sumoylation processes during Epstein-Barr virus latency. PLOS ONE 14:5, pages e0217578.
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Sadia Salahuddin, Emma K. Fath, Natalie Biel, Ashley Ray, C. Randall Moss, Akash Patel, Sheetal Patel, Leslie Hilding, Matthew Varn, Tabithia Ross, Wyatt T. Cramblet, Angela Lowrey, Joseph S. Pagano, Julia Shackelford & Gretchen L. Bentz. (2019) Epstein-Barr Virus Latent Membrane Protein-1 Induces the Expression of SUMO-1 and SUMO-2/3 in LMP1-positive Lymphomas and Cells. Scientific Reports 9:1.
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Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody & James L Mills. (2017) Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. Journal of Human Genetics 62:10, pages 877-884.
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Erwin Pauws & Philip Stanier. 2017. SUMO Regulation of Cellular Processes. SUMO Regulation of Cellular Processes 323 335 .
Sayantan Ghosh & J. Febin Prabhu Dass. (2016) Study of pathway cross-talk interactions with NF-κB leading to its activation via ubiquitination or phosphorylation: A brief review. Gene 584:1, pages 97-109.
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Gretchen L. Bentz, Charles Randall MossIIII, Christopher B. Whitehurst, Cary A. Moody & Joseph S. Pagano. (2015) LMP1-Induced Sumoylation Influences the Maintenance of Epstein-Barr Virus Latency through KAP1. Journal of Virology 89:15, pages 7465-7477.
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Eleonora Candi, Massimiliano Agostini, Gerry Melino & Francesca Bernassola. (2014) How the TP53 Family Proteins TP63 and TP73 Contribute to Tumorigenesis: Regulators and Effectors . Human Mutation 35:6, pages 702-714.
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Tomasz Gromowski, Bartłomiej Masojć, Rodney J. Scott, Cezary Cybulski, Bohdan Górski, Wojciech Kluźniak, Katarzyna Paszkowska-Szczur, Andrzej Rozmiarek, Bogusław Dębniak, Romuald Maleszka, Józef Kładny, Jan Lubiński & Tadeusz Dębniak. (2014) Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. Cancer Genetics 207:4, pages 128-132.
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Hongjie Zhang, Xiaoyi Kuai, Zeyu Ji, Zhengyang Li & Ruihua Shi. (2013) Over-Expression of Small Ubiquitin-Related Modifier-1 and Sumoylated p53 in Colon Cancer. Cell Biochemistry and Biophysics 67:3, pages 1081-1087.
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Eloisa Carta, Erwin Pauws, Anna C. Thomas, Konstantinos Mengrelis, Gudrun E. Moore, Melissa Lees & Philip Stanier. (2012) Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Research Part A: Clinical and Molecular Teratology 94:6, pages 459-463.
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Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng & Tao Cai. (2012) Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene. PLoS ONE 7:5, pages e35337.
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Theodora E. Danciu, Sergey Chupreta, Osvaldo Cruz, Jennifer E. Fox, Malcolm Whitman & Jorge A. Iñiguez-Lluhí. (2012) Small Ubiquitin-like Modifier (SUMO) Modification Mediates Function of the Inhibitory Domains of Developmental Regulators FOXC1 and FOXC2. Journal of Biological Chemistry 287:22, pages 18318-18329.
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Yang-Seok Chae, Hyunji Kim, Dongsung Kim, Hyunsook Lee & Hae-ock Lee. (2012) Cell density‐dependent acetylation of ΔNp63α is associated with p53‐dependent cell cycle arrest. FEBS Letters 586:8, pages 1128-1134.
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Gareth Browne, Rita Cipollone, Anna Maria Lena, Valeria Serra, Huiqing Zhou, Hans van Bokhoven, Volker Dötsch, Daniele Merico, Roberto Mantovani, Alessandro Terrinoni, Richard A. Knight, Eleonora Candi & Gerry Melino. (2011) Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias. Journal of Cell Science 124:13, pages 2200-2207.
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Yoshitsugu Mitani, Jie Li, Randal S. Weber, Scott L. Lippman, Elsa R. Flores, Carlos Caulin & Adel K. El-Naggar. (2011) Expression and Regulation of the ΔN and TAp63 Isoforms in Salivary Gland Tumorigenesis. The American Journal of Pathology 179:1, pages 391-399.
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Olivier Duverger, Susie X. Chen, Delia Lee, Tianwei Li, P. Boon Chock & Maria I. Morasso. (2011) SUMOylation of DLX3 by SUMO1 promotes its transcriptional activity. Journal of Cellular Biochemistry 112:2, pages 445-452.
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L Collavin, A Lunardi & G Del Sal. (2010) p53-family proteins and their regulators: hubs and spokes in tumor suppression. Cell Death & Differentiation 17:6, pages 901-911.
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W E Straub, T A Weber, B Schäfer, E Candi, F Durst, H D Ou, K Rajalingam, G Melino & V Dötsch. (2010) The C-terminus of p63 contains multiple regulatory elements with different functions. Cell Death & Disease 1:1, pages e5-e5.
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Artemisia M. Andreou & Nektarios Tavernarakis. (2009) SUMOylation and cell signalling. Biotechnology Journal 4:12, pages 1740-1752.
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S Komatsu, H Takenobu, T Ozaki, K Ando, N Koida, Y Suenaga, T Ichikawa, T Hishiki, T Chiba, A Iwama, H Yoshida, N Ohnuma, A Nakagawara & T Kamijo. (2009) Plk1 regulates liver tumor cell death by phosphorylation of TAp63. Oncogene 28:41, pages 3631-3641.
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Erwin Pauws & Philip Stanier. 2009. SUMO Regulation of Cellular Processes. SUMO Regulation of Cellular Processes 301 313 .
Nadia Danilova, Kathleen M. Sakamoto & Shuo Lin. (2008) p53 family in development. Mechanisms of Development 125:11-12, pages 919-931.
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Federico Mauri, Laura M. McNamee, Andrea Lunardi, Fulvio Chiacchiera, Giannino Del Sal, Michael H. Brodsky & Licio Collavin. (2008) Modification of Drosophila p53 by SUMO Modulates Its Transactivation and Pro-apoptotic Functions. Journal of Biological Chemistry 283:30, pages 20848-20856.
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Mary MacPartlin, Shelya X. Zeng & Hua Lu. (2008) Phosphorylation and Stabilization of TAp63γ by IκB Kinase-β. Journal of Biological Chemistry 283:23, pages 15754-15761.
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Tongxiu Luo, Weishi Yu, Zengjin Yuan, Yun Deng, Yulian Zhao, Wuzhou Yuan, Jing Xiao, Yuequn Wang, Na Luo, Xiaoyang Mo, Yongqing Li, Mingyao Liu & Xiushan Wu. (2008) A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 637:1-2, pages 182-189.
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Amel Gritli‐Linde. 2008. Mouse Models of Developmental Genetic Disease. Mouse Models of Developmental Genetic Disease 37 138 .
Hae-ock Lee, Mioh Cho, Jung-Hwa Lee, Hyo-Sil Kim, Yungdae Yun & Hyunsook Lee. (2007) SuPr-1-mediated desumoylation regulates the repressor activity of ΔNp63α. FEBS Letters 581:29, pages 5640-5644.
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Erwin Pauws & Philip Stanier. (2007) FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Trends in Genetics 23:12, pages 631-640.
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Artemisia M. Andreou, Erwin Pauws, Marius C. Jones, Manvendra K. Singh, Markus Bussen, Kit Doudney, Gudrun E. Moore, Andreas Kispert, Jan J. Brosens & Philip Stanier. (2007) TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression. The American Journal of Human Genetics 81:4, pages 700-712.
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Ian R. Watson & Meredith S. Irwin. (2006) Ubiquitin and Ubiquitin-Like Modifications of the p53 Family. Neoplasia 8:8, pages 655-666.
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Christopher E. Barbieri & Jennifer A. Pietenpol. (2006) p63 and epithelial biology. Experimental Cell Research 312:6, pages 695-706.
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Maranke I. Koster, Soeun Kim & Dennis R. Roop. (2005) p63 Deficiency: A Failure of Lineage Commitment or Stem Cell Maintenance?. Journal of Investigative Dermatology Symposium Proceedings 10:2, pages 118-123.
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Maria I. Morasso & Nadezda Radoja. (2005) Dlx genes, p63, and ectodermal dysplasias. Birth Defects Research Part C: Embryo Today: Reviews 75:3, pages 163-171.
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Karin U. Schallreuter, Jeremy Moore, John M. Wood, Wayne D. Beazley, David C. Gaze, Desmond J. Tobin, Harriet S. Marshall, Angela Panske, Eberhard Panzig & Nigel A. Hibberts. (1999) In Vivo and In Vitro Evidence for Hydrogen Peroxide (H2O2) Accumulation in the Epidermis of Patients with Vitiligo and its Successful Removal by a UVB-Activated Pseudocatalase. Journal of Investigative Dermatology Symposium Proceedings 4:1, pages 91-96.
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