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Items: 1 to 20 of 23

1.
Insights on autophagosome–lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5
Sung-Eun Nam, Yiu Wing Sunny Cheung, Thanh Ngoc Nguyen, Michael Gong, Samuel Chan, Michael Lazarou, Calvin K. Yip
Commun Biol. 2021; 4: 291. Published online 2021 Mar 5. doi: 10.1038/s42003-021-01830-x
PMCID:
PMC7935953
AbstractArticlePDF–3.8M
2.
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
Megan S. Kane, Thierry Vilboux, Lynne A. Wolfe, Paul R. Lee, Yupeng Wang, Kathi C. Huddleston, Joseph G. Vockley, John E. Niederhuber, Benjamin D. Solomon
Brain. 2016 Sep; 139(9): e52. Published online 2016 Jun 24. doi: 10.1093/brain/aww135
PMCID:
PMC5841196
ArticlePDF–365K
3.
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Sci Rep. 2017; 7: 3552. Published online 2017 Jun 14. doi: 10.1038/s41598-017-02840-8
PMCID:
PMC5471274
AbstractArticlePDF–5.0M
4.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Thomas Cullup, Ay L. Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis M. Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, Istvan Bodi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth
Nat Genet. Author manuscript; available in PMC 2014 May 7.
Published in final edited form as: Nat Genet. 2013 Jan; 45(1): 83–87. Published online 2012 Dec 9. doi: 10.1038/ng.2497
PMCID:
PMC4012842
AbstractArticlePDF–1017K
5.
Clinical utility gene card for: Vici Syndrome
Thomas Cullup, Carlo Dionisi-Vici, Ay L Kho, Shu Yau, Shehla Mohammed, Mathias Gautel, Heinz Jungbluth
Eur J Hum Genet. 2014 Mar; 22(3) Published online 2013 Jul 10. doi: 10.1038/ejhg.2013.142
PMCID:
PMC3925270
ArticlePDF–199K
6.
Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5
Hansjörg Schwertz, Jesse W. Rowley, Irina Portier, Elizabeth A. Middleton, Neal D. Tolley, Robert A. Campbell, Alicia S. Eustes, Karin Chen, Matthew T. Rondina
Autophagy. 2022; 18(7): 1534–1550. Published online 2021 Nov 18. doi: 10.1080/15548627.2021.1990669
PMCID:
PMC9298447
AbstractArticlePDF–1.8M
7.
C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer
Hui Li, Juan Liu, Wenjie Cao, Xiaojuan Xiao, Long Liang, Feng Liu-Smith, Weiwei Wang, Hong Liu, Peng Zhou, Ruoyun Ouyang, Zhijun Yuan, Jing Liu, Mao Ye, Bin Zhang
Theranostics. 2019; 9(18): 5134–5148. Published online 2019 Jul 9. doi: 10.7150/thno.34887
PMCID:
PMC6691579
AbstractArticlePDF–3.3M
8.
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
E. Piano Mortari, V. Folgiero, V. Marcellini, P. Romania, E. Bellacchio, V. D'Alicandro, C. Bocci, R. Carrozzo, D. Martinelli, S. Petrini, E. Axiotis, C. Farroni, F. Locatelli, U. Schara, D.T. Pilz, H. Jungbluth, C. Dionisi-Vici, R. Carsetti
Autophagy. 2018; 14(1): 22–37. Published online 2018 Jan 2. doi: 10.1080/15548627.2017.1389356
PMCID:
PMC5846549
AbstractArticlePDF–1.7M
9.
USP8 maintains embryonic stem cell stemness via deubiquitination of EPG5
Haifeng Gu, Xingxing Shi, Chao Liu, Chaoqun Wang, Ning Sui, Yu Zhao, Jiaqi Gong, Fuping Wang, Hong Zhang, Wei Li, Tongbiao Zhao
Nat Commun. 2019; 10: 1465. Published online 2019 Apr 1. doi: 10.1038/s41467-019-09430-4
PMCID:
PMC6443784
AbstractArticlePDF–1.9M
10.
Replication of a genome-wide case-control study of esophageal squamous cell carcinoma
David Ng, Nan Hu, Ying Hu, Chaoyu Wang, Carol Giffen, Ze-Zhong Tang, Xiao-You Han, Howard H. Yang, Maxwell P. Lee, Alisa M. Goldstein, Philip R. Taylor
Int J Cancer. Author manuscript; available in PMC 2009 Oct 1.
Published in final edited form as: Int J Cancer. 2008 Oct 1; 123(7): 1610–1615. doi: 10.1002/ijc.23682
PMCID:
PMC2552411
AbstractArticlePDF–374K
11.
Interaction between the scaffold proteins CBP by IQGAP1 provides an interface between gene expression and cytoskeletal activity
Simone Kosol, Sara Contreras-Martos, Alessandro Piai, Mihaly Varadi, Tamas Lazar, Angela Bekesi, Pierre Lebrun, Isabella C. Felli, Roberta Pierattelli, Peter Tompa
Sci Rep. 2020; 10: 5753. Published online 2020 Apr 1. doi: 10.1038/s41598-020-62069-w
PMCID:
PMC7113243
AbstractArticlePDF–4.2M
12.
Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation
Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen
Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2
PMCID:
PMC7863430
AbstractArticlePDF–6.5M
13.
A Synthetic Interaction Screen Identifies Factors Selectively Required for Proliferation and TERT Transcription in p53-Deficient Human Cancer Cells
Li Xie, Claude Gazin, Sung Mi Park, Lihua J. Zhu, Marie-anne Debily, Ellen L. W. Kittler, Maria L. Zapp, David Lapointe, Stephane Gobeil, Ching-Man Virbasius, Michael R. Green
PLoS Genet. 2012 Dec; 8(12): e1003151. Published online 2012 Dec 20. doi: 10.1371/journal.pgen.1003151
PMCID:
PMC3527276
AbstractArticlePDF–1.8M
14.
EDEM1 Drives Misfolded Protein Degradation via ERAD and Exploits ER-Phagy as Back-Up Mechanism When ERAD Is Impaired
Marioara Chiritoiu, Gabriela N. Chiritoiu, Cristian V. A. Munteanu, Florin Pastrama, N. Erwin Ivessa, Stefana M. Petrescu
Int J Mol Sci. 2020 May; 21(10): 3468. Published online 2020 May 14. doi: 10.3390/ijms21103468
PMCID:
PMC7279049
AbstractArticlePDF–12M
15.
Functional Proteomics Mapping of a Human Signaling Pathway
Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier
Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104
PMCID:
PMC442148
AbstractArticlePDF–290K
16.
Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis
Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani
Oncogene. Author manuscript; available in PMC 2020 Sep 29.
Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9
PMCID:
PMC7523706
AbstractArticlePDF–2.3M
17.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism
Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell
Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8
PMCID:
PMC5630600
AbstractArticlePDF–2.3M
18.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
19.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
20.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K

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