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Items: 1 to 20 of 93

1.
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early‐infantile developmental and epileptic encephalopathies
Jing Zhang, Xinting Liu, Gang Zhu, Lin Wan, Yan Liang, Nannan Li, Mingwei Huang, Guang Yang
Brain Behav. 2024 May; 14(5): e3535. Published online 2024 May 21. doi: 10.1002/brb3.3535
PMCID:
PMC11109505
AbstractArticlePDF–1.3M
2.
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
Genes (Basel) 2023 Mar; 14(3): 707. Published online 2023 Mar 13. doi: 10.3390/genes14030707
PMCID:
PMC10048441
AbstractArticlePDF–2.6M
3.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey, Santiago Ramón-Maiques, Encarnacion Martinez-Salas
Life Sci Alliance. 2022 Jul; 5(7): e202201403. Published online 2022 Apr 7. doi: 10.26508/lsa.202201403
PMCID:
PMC8989681
AbstractArticlePDF–2.9M
4.
Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control
María Moreno-Morcillo, Rosario Francisco-Velilla, Azman Embarc-Buh, Javier Fernández-Chamorro, Santiago Ramón-Maiques, Encarnacion Martinez-Salas
Nucleic Acids Res. 2020 Jan 24; 48(2): 788–801. Published online 2019 Dec 4. doi: 10.1093/nar/gkz1126
PMCID:
PMC6954437
AbstractArticlePDF–3.7M
5.
The landscape of the non-canonical RNA-binding site of Gemin5 unveils a feedback loop counteracting the negative effect on translation
Rosario Francisco-Velilla, Javier Fernandez-Chamorro, Ivan Dotu, Encarnación Martinez-Salas
Nucleic Acids Res. 2018 Aug 21; 46(14): 7339–7353. Published online 2018 May 16. doi: 10.1093/nar/gky361
PMCID:
PMC6101553
AbstractArticlePDF–4.4M
6.
Identification of novel non-canonical RNA-binding sites in Gemin5 involved in internal initiation of translation
Javier Fernandez-Chamorro, David Piñeiro, James M. B. Gordon, Jorge Ramajo, Rosario Francisco-Velilla, Maria J. Macias, Encarnación Martinez-Salas
Nucleic Acids Res. 2014 May 1; 42(9): 5742–5754. Published online 2014 Mar 5. doi: 10.1093/nar/gku177
PMCID:
PMC4027194
AbstractArticlePDF–5.8M
7.
Alterations in Gemin5 Expression Contribute to Alternative mRNA Splicing Patterns and Tumor Cell Motility
Jong Heun Lee, Christine E. Horak, Chand Khanna, Zhaojing Meng, Li Rong Yu, Timothy D. Veenstra, Patricia S. Steeg
Cancer Res. Author manuscript; available in PMC 2009 May 7.
Published in final edited form as: Cancer Res. 2008 Feb 1; 68(3): 639–644. doi: 10.1158/0008-5472.CAN-07-2632
PMCID:
PMC2678556
AbstractArticlePDF–1.4M
8.
Absence of gemin5 from SMN complexes in nuclear Cajal bodies
Le thi Hao, Heidi R Fuller, Le Thanh Lam, Thanh T Le, Arthur HM Burghes, Glenn E Morris
BMC Cell Biol. 2007; 8: 28. Published online 2007 Jul 18. doi: 10.1186/1471-2121-8-28
PMCID:
PMC1939999
AbstractArticlePDF–3.0M
9.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Nat Commun. 2021; 12: 2558. Published online 2021 May 7. doi: 10.1038/s41467-021-22627-w
PMCID:
PMC8105379
AbstractArticlePDF–5.5M
10.
Structural basis for snRNA recognition by the double-WD40 repeat domain of Gemin5
Wenxing Jin, Yi Wang, Chao-Pei Liu, Na Yang, Mingliang Jin, Yao Cong, Mingzhu Wang, Rui-Ming Xu
Genes Dev. 2016 Nov 1; 30(21): 2391–2403. doi: 10.1101/gad.291377.116
PMCID:
PMC5131779
AbstractArticlePDF–1.5M
11.
Structural insights into Gemin5-guided selection of pre-snRNAs for snRNP assembly
Chao Xu, Hideaki Ishikawa, Keiichi Izumikawa, Li Li, Hao He, Yuko Nobe, Yoshio Yamauchi, Hanief M. Shahjee, Xian-Hui Wu, Yi-tao Yu, Toshiaki Isobe, Nobuhiro Takahashi, Jinrong Min
Genes Dev. 2016 Nov 1; 30(21): 2376–2390. doi: 10.1101/gad.288340.116
PMCID:
PMC5131778
AbstractArticlePDF–1.0M
12.
The RNA-binding protein Gemin5 binds directly to the ribosome and regulates global translation
Rosario Francisco-Velilla, Javier Fernandez-Chamorro, Jorge Ramajo, Encarnación Martinez-Salas
Nucleic Acids Res. 2016 Sep 30; 44(17): 8335–8351. Published online 2016 Aug 9. doi: 10.1093/nar/gkw702
PMCID:
PMC5041490
AbstractArticlePDF–4.7M
13.
Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization
Nils Neuenkirchen, Clemens Englbrecht, Jürgen Ohmer, Thomas Ziegenhals, Ashwin Chari, Utz Fischer
EMBO J. 2015 Jul 14; 34(14): 1925–1941. Published online 2015 Jun 11. doi: 10.15252/embj.201490350
PMCID:
PMC4547896
AbstractArticlePDF–2.9M
14.
Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression
Eileen Workman, Caitlin Kalda, Aalapi Patel, Daniel J. Battle
J Biol Chem. 2015 Jun 19; 290(25): 15662–15669. Published online 2015 Apr 24. doi: 10.1074/jbc.M115.646257
PMCID:
PMC4505476
AbstractArticlePDF–1016K
15.
Identification of Gemin5 as a Novel 7-Methylguanosine Cap-Binding Protein
Shelton S. Bradrick, Matthias Gromeier
PLoS One. 2009; 4(9): e7030. Published online 2009 Sep 14. doi: 10.1371/journal.pone.0007030
PMCID:
PMC2736588
AbstractArticlePDF–1016K
16.
Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity
Ke-Jun Han, Daniel Foster, Edward W. Harhaj, Monika Dzieciatkowska, Kirk Hansen, Chang-Wei Liu
Hum Mol Genet. 2016 Apr 1; 25(7): 1392–1405. Published online 2016 Jan 28. doi: 10.1093/hmg/ddw021
PMCID:
PMC4787908
AbstractArticlePDF–947K
17.
Ubiquitin-specific Protease 9x Deubiquitinates and Stabilizes the Spinal Muscular Atrophy Protein-Survival Motor Neuron
Ke-Jun Han, Daniel G. Foster, Nan-Yan Zhang, Kavdia Kanisha, Monika Dzieciatkowska, Robert A. Sclafani, Kirk C. Hansen, Junmin Peng, Chang-Wei Liu
J Biol Chem. 2012 Dec 21; 287(52): 43741–43752. Published online 2012 Oct 30. doi: 10.1074/jbc.M112.372318
PMCID:
PMC3527959
AbstractArticlePDF–1.9M
18.
Non-proteolytic ubiquitination of OTULIN regulates NF-κB signaling pathway
Mengmeng Zhao, Kun Song, Wenzhuo Hao, Lingyan Wang, Girish Patil, Qingmei Li, Lingling Xu, Fang Hua, Bishi Fu, Jens C Schwamborn, Martin E Dorf, Shitao Li
J Mol Cell Biol. 2020 Mar; 12(3): 163–175. Published online 2019 Sep 3. doi: 10.1093/jmcb/mjz081
PMCID:
PMC7181720
AbstractArticlePDF–1.3M
19.
Identification of new high affinity targets for Roquin based on structural conservation
Johannes Braun, Sandra Fischer, Zhenjiang Z Xu, Hongying Sun, Dalia H Ghoneim, Anna T Gimbel, Uwe Plessmann, Henning Urlaub, David H Mathews, Julia E Weigand
Nucleic Acids Res. 2018 Dec 14; 46(22): 12109–12125. Published online 2018 Oct 8. doi: 10.1093/nar/gky908
PMCID:
PMC6294493
AbstractArticlePDF–3.6M
20.
Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis
Jeongsik Yong, Mumtaz Kasim, Jennifer L. Bachorik, Lili Wan, Gideon Dreyfuss
Mol Cell. Author manuscript; available in PMC 2010 Nov 28.
Published in final edited form as: Mol Cell. 2010 May 28; 38(4): 551–562. doi: 10.1016/j.molcel.2010.03.014
PMCID:
PMC2901871
AbstractArticlePDF–2.1M

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