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Items: 19

1.
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai
BMC Med Genomics. 2023; 16: 253. Published online 2023 Oct 20. doi: 10.1186/s12920-023-01586-9
PMCID:
PMC10590002
AbstractArticlePDF–2.1M
2.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
3.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
4.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
Jiaxi Yu, Jingli Shan, Meng Yu, Li Di, Zhiying Xie, Wei Zhang, He Lv, Lingchao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Xueyu Guo, Yang Wang, Jianying Xi, Wenhua Zhu, Yuwei Da, Daojun Hong, Yun Yuan, Chuanzhu Yan, Zhaoxia Wang, Jianwen Deng
Am J Hum Genet. 2022 Mar 3; 109(3): 533–541. Published online 2022 Feb 10. doi: 10.1016/j.ajhg.2022.01.012
PMCID:
PMC8948162
AbstractArticlePDF–2.0M
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
7.
RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase–mediated centrosomal cohesion and ciliogenesis deficits
Antonio Jesús Lara Ordónez, Belén Fernández, Elena Fdez, María Romo-Lozano, Jesús Madero-Pérez, Evy Lobbestael, Veerle Baekelandt, Ana Aiastui, Adolfo López de Munaín, Heather L Melrose, Laura Civiero, Sabine Hilfiker
Hum Mol Genet. 2019 Nov 1; 28(21): 3552–3568. Published online 2019 Aug 20. doi: 10.1093/hmg/ddz201
PMCID:
PMC6927464
AbstractArticlePDF–285M
8.
A pathway for Parkinson’s Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain
Herschel S Dhekne, Izumi Yanatori, Rachel C Gomez, Francesca Tonelli, Federico Diez, Birgitt Schüle, Martin Steger, Dario R Alessi, Suzanne R Pfeffer
eLife. 2018; 7: e40202. Published online 2018 Nov 6. doi: 10.7554/eLife.40202
PMCID:
PMC6219843
AbstractArticlePDF–5.5M
9.
Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis
Martin Steger, Federico Diez, Herschel S Dhekne, Pawel Lis, Raja S Nirujogi, Ozge Karayel, Francesca Tonelli, Terina N Martinez, Esben Lorentzen, Suzanne R Pfeffer, Dario R Alessi, Matthias Mann
eLife. 2017; 6: e31012. Published online 2017 Nov 10. doi: 10.7554/eLife.31012
PMCID:
PMC5695910
AbstractArticlePDF–2.7M
10.
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
11.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
12.
High-throughput analyses of hnRNP H1 dissects its multi-functional aspect
Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva
RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030
PMCID:
PMC4841607
AbstractArticlePDF–1.6M
13.
An improved smaller biotin ligase for BioID proximity labeling
Dae In Kim, Samuel C. Jensen, Kyle A. Noble, Birendra KC, Kenneth H. Roux, Khatereh Motamedchaboki, Kyle J. Roux
Mol Biol Cell. 2016 Apr 15; 27(8): 1188–1196. doi: 10.1091/mbc.E15-12-0844
PMCID:
PMC4831873
AbstractArticlePDF–2.1M
14.
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method
Cornelius A. Rietveld, Tõnu Esko, Gail Davies, Tune H. Pers, Patrick Turley, Beben Benyamin, Christopher F. Chabris, Valur Emilsson, Andrew D. Johnson, James J. Lee, Christiaan de Leeuw, Riccardo E. Marioni, Sarah E. Medland, Michael B. Miller, Olga Rostapshova, Sven J. van der Lee, Anna A. E. Vinkhuyzen, Najaf Amin, Dalton Conley, Jaime Derringer, Cornelia M. van Duijn, Rudolf Fehrmann, Lude Franke, Edward L. Glaeser, Narelle K. Hansell, Caroline Hayward, William G. Iacono, Carla Ibrahim-Verbaas, Vincent Jaddoe, Juha Karjalainen, David Laibson, Paul Lichtenstein, David C. Liewald, Patrik K. E. Magnusson, Nicholas G. Martin, Matt McGue, George McMahon, Nancy L. Pedersen, Steven Pinker, David J. Porteous, Danielle Posthuma, Fernando Rivadeneira, Blair H. Smith, John M. Starr, Henning Tiemeier, Nicholas J. Timpson, Maciej Trzaskowski, André G. Uitterlinden, Frank C. Verhulst, Mary E. Ward, Margaret J. Wright, George Davey Smith, Ian J. Deary, Magnus Johannesson, Robert Plomin, Peter M. Visscher, Daniel J. Benjamin, David Cesarini, Philipp D. Koellinger
Proc Natl Acad Sci U S A. 2014 Sep 23; 111(38): 13790–13794. Published online 2014 Sep 8. doi: 10.1073/pnas.1404623111
Correction in:
Proc Natl Acad Sci U S A. 2015 Jan 27; 112(4): E380.
PMCID:
PMC4183313
AbstractArticlePDF–650K
15.
The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content
Johanna R. Schaub, Tim Stearns
Mol Biol Cell. 2013 Feb 15; 24(4): 453–464. doi: 10.1091/mbc.E12-08-0598
PMCID:
PMC3571868
AbstractArticlePDF–1.9M
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
GOSPEL: A novel neuroprotective protein that binds to GAPDH upon S-nitrosylation
Nilkantha Sen, Makoto R. Hara, Abdullah Shafique Ahmed, Matthew B. Cascio, Atsushi Kamiya, Jeffrey T. Ehmsen, Nishant Aggrawal, Lynda Hester, Sylvain Dore, Solomon H. Snyder, Akira Sawa
Neuron. Author manuscript; available in PMC 2010 Jul 16.
Published in final edited form as: Neuron. 2009 Jul 16; 63(1): 81–91. doi: 10.1016/j.neuron.2009.05.024
PMCID:
PMC2758064
AbstractArticlePDF–2.4M
18.
A Unique Region of RILP Distinguishes It from Its Related Proteins in Its Regulation of Lysosomal Morphology and Interaction with Rab7 and Rab34
Tuanlao Wang, Ka Khuen Wong, Wanjin Hong
Mol Biol Cell. 2004 Feb; 15(2): 815–826. doi: 10.1091/mbc.E03-06-0413
PMCID:
PMC329395
AbstractArticlePDF–1.3M
19.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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