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Items: 20

1.
ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis
Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi
Proc Natl Acad Sci U S A. 2023 Dec 12; 120(50): e2220496120. Published online 2023 Dec 8. doi: 10.1073/pnas.2220496120
PMCID:
PMC10723147
AbstractArticlePDF–8.3M
2.
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis
Qiang Shao, Mei Yang, Chen Liang, Li Ma, Wei Zhang, Zhiwen Jiang, Jun Luo, Jae-Kyung Lee, Chengyu Liang, Jian-Fu Chen
Autophagy. 2020; 16(9): 1635–1650. Published online 2019 Dec 26. doi: 10.1080/15548627.2019.1703353
PMCID:
PMC8386604
AbstractArticlePDF–5.4M
3.
BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)
Kou Motani, Hidetaka Kosako
J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323
PMCID:
PMC7415991
AbstractArticlePDF–2.0M
4.
Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models
Chen Liang, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian-Fu Chen
Hum Mol Genet. 2019 Dec 1; 28(23): 3940–3953. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz230
Correction in:
Hum Mol Genet. 2020 Apr 15; 29(6): 1056.
PMCID:
PMC7282195
AbstractArticlePDF–2.5M
5.
Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels
Shangxi Xiao, Paul M. McKeever, Agnes Lau, Janice Robertson
Acta Neuropathol Commun. 2019; 7: 161. Published online 2019 Oct 24. doi: 10.1186/s40478-019-0812-5
PMCID:
PMC6813971
AbstractArticlePDF–2.1M
6.
SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis
Yungang Lan, Peter M. Sullivan, Fenghua Hu
Autophagy. 2019; 15(5): 871–885. Published online 2019 Jan 29. doi: 10.1080/15548627.2019.1569914
PMCID:
PMC6526807
AbstractArticlePDF–4.2M
7.
Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function
William McAlpine, Lei Sun, Kuan-wen Wang, Aijie Liu, Ruchi Jain, Miguel San Miguel, Jianhui Wang, Zhao Zhang, Braden Hayse, Sarah Grace McAlpine, Jin Huk Choi, Xue Zhong, Sara Ludwig, Jamie Russell, Xiaoming Zhan, Mihwa Choi, Xiaohong Li, Miao Tang, Eva Marie Y. Moresco, Bruce Beutler, Emre Turer
Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): E11523–E11531. Published online 2018 Nov 15. doi: 10.1073/pnas.1814753115
PMCID:
PMC6298088
AbstractArticlePDF–946K
8.
The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis
Yingying Zhang, Aaron Burberry, Jin-Yuan Wang, Jackson Sandoe, Sulagna Ghosh, Namrata D. Udeshi, Tanya Svinkina, Daniel A. Mordes, Joanie Mok, Maura Charlton, Quan-Zhen Li, Steven A. Carr, Kevin Eggan
Genes Dev. 2018 Jul 1; 32(13-14): 929–943. doi: 10.1101/gad.313932.118
PMCID:
PMC6075033
AbstractArticlePDF–6.0M
9.
Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling
Janet Ugolino, Yon Ju Ji, Karen Conchina, Justin Chu, Raja Sekhar Nirujogi, Akhilesh Pandey, Nathan R. Brady, Anne Hamacher-Brady, Jiou Wang
PLoS Genet. 2016 Nov; 12(11): e1006443. Published online 2016 Nov 22. doi: 10.1371/journal.pgen.1006443
PMCID:
PMC5119725
AbstractArticlePDF–2.6M
10.
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy
Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen
Sci Adv. 2016 Sep; 2(9): e1601167. Published online 2016 Sep 2. doi: 10.1126/sciadv.1601167
PMCID:
PMC5010369
AbstractArticlePDF–11M
11.
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death
Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand
EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350
PMCID:
PMC4910533
AbstractArticlePDF–1.5M
12.
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
13.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
14.
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells
Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin
Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108
PMCID:
PMC2556270
AbstractArticlePDF–493K
15.
Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike
Jiong Yan, Weimin Bi, James R. Lupski
Am J Hum Genet. 2007 Mar; 80(3): 518–525. Published online 2007 Jan 18. doi: 10.1086/512043
PMCID:
PMC1821110
AbstractArticlePDF–1.5M
16.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
17.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M
18.
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells
Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin
Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064
PMCID:
PMC165511
AbstractArticlePDF–217K
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
20.
Database resources of the National Center for Biotechnology Information
David L. Wheeler, Deanna M. Church, Alex E. Lash, Detlef D. Leipe, Thomas L. Madden, Joan U. Pontius, Gregory D. Schuler, Lynn M. Schriml, Tatiana A. Tatusova, Lukas Wagner, Barbara A. Rapp
Nucleic Acids Res. 2001 Jan 1; 29(1): 11–16. doi: 10.1093/nar/29.1.11
PMCID:
PMC29800
AbstractArticlePDF–101K

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