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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 103078522.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 96470443.

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

Lisa E.L. Romano, Wen Yih Aw, Kathryn M. Hixson, Tatiana V. Novoselova, Tammy M. Havener, Stefanie Howell, Bonnie Taylor-Blake, Charlotte L. Hall, Lei Xing, Josh Beri, Suran Nethisinghe, Laura Perna, Abubakar Hatimy, Ginevra Chioccioli Altadonna, Lee M. Graves, Laura E. Herring, Anthony J. Hickey, Konstantinos Thalassinos, J. Paul Chapple, Justin M. Wolter

Cell Rep. 2022 Nov 1; 41(5): 111580. Published online 2022 Nov 1. doi: 10.1016/j.celrep.2022.111580

PMCID:: PMC9647044

Abstract Article

Select item 90156994.

The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery

Kiren Baines, Kazuaki Yoshioka, Yoh Takuwa, Jon D. Lane

Autophagy Rep. 2022; 1(1): 88–118. Published online 2022 Apr 7. doi: 10.1080/27694127.2022.2042054

PMCID:: PMC9015699

Abstract Article PDF–3.3M

Select item 79387705.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 74159916.

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

Abstract Article PDF–2.0M

Select item 64168587.

Sacs R272C missense homozygous mice develop an ataxia phenotype

Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais

Mol Brain. 2019; 12: 19. Published online 2019 Mar 12. doi: 10.1186/s13041-019-0438-3

PMCID:: PMC6416858

Abstract Article PDF–20M

Select item 61175488.

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS

Visou Ady, Brenda Toscano‐Márquez, Moushumi Nath, Philip K. Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R. Anne McKinney, Alanna J. Watt

J Physiol. 2018 Sep 1; 596(17): 4253–4267. Published online 2018 Jul 19. doi: 10.1113/JP275902

Correction in:: J Physiol. 2019 Jul; 597(13): 3503.

PMCID:: PMC6117548

Abstract Article PDF–1.5M

Select item 58862479.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Emma J. Duncan, Roxanne Larivière, Teisha Y. Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J. Hayes, Lisa E.L. Romano, Suran Nethisinghe, Paola Giunti, Michaela B. Bruntraeger, Heather D. Durham, Bernard Brais, Francesca Maltecca, Benoit J. Gentil, J. Paul Chapple

Hum Mol Genet. 2017 Aug 15; 26(16): 3130–3143. Published online 2017 May 23. doi: 10.1093/hmg/ddx197

PMCID:: PMC5886247

Abstract Article PDF–2.2M

Select item 550974010.

Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling

Brent Wilkinson, Jing Li, Marcelo P. Coba

Sci Rep. 2017; 7: 5272. Published online 2017 Jul 13. doi: 10.1038/s41598-017-05588-3

PMCID:: PMC5509740

Abstract Article PDF–4.6M

Select item 429124911.

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Roxanne Larivière, Rébecca Gaudet, Benoit J. Gentil, Martine Girard, Talita Cristiane Conte, Sandra Minotti, Kim Leclerc-Desaulniers, Kalle Gehring, R. Anne McKinney, Eric A. Shoubridge, Peter S. McPherson, Heather D. Durham, Bernard Brais

Hum Mol Genet. 2015 Feb 1; 24(3): 727–739. Published online 2014 Sep 26. doi: 10.1093/hmg/ddu491

PMCID:: PMC4291249

Abstract Article PDF–1.9M

Select item 327716812.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt, Emily C. Deane, Rebecca Gaudet, Nadya Nossova, Francois Blondeau, George Prenosil, Esmeralda G. M. Vermeulen, Michael R. Duchen, Andrea Richter, Eric A. Shoubridge, Kalle Gehring, R. Anne McKinney, Bernard Brais, J. Paul Chapple, Peter S. McPherson

Proc Natl Acad Sci U S A. 2012 Jan 31; 109(5): 1661–1666. Published online 2012 Jan 17. doi: 10.1073/pnas.1113166109

PMCID:: PMC3277168

Abstract Article PDF–855K

Select item 317805913.

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

Abstract Article PDF–1.0M

Select item 302253414.

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

Abstract Article PDF–3.8M

Select item 266728515.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, J. Paul Chapple

Hum Mol Genet. 2009 May 1; 18(9): 1556–1565. Published online 2009 Feb 10. doi: 10.1093/hmg/ddp067

PMCID:: PMC2667285

Abstract Article PDF–441K

Select item 38773116.

Normal Development and Fertility of Knockout Mice Lacking the Tumor Suppressor Gene LRP1b Suggest Functional Compensation by LRP1

Peter Marschang, Jochen Brich, Edwin J. Weeber, J. David Sweatt, John M. Shelton, James A. Richardson, Robert E. Hammer, Joachim Herz

Mol Cell Biol. 2004 May; 24(9): 3782–3793. doi: 10.1128/MCB.24.9.3782-3793.2004

PMCID:: PMC387731

Abstract Article PDF–543K

Select item 31099217.

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

Abstract Article PDF–3.4M

Select item 31098018.

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

Abstract Article PDF–1.4M

Select item 28355419.

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100

Correction in:: Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.

PMCID:: PMC283554

Abstract Article PDF–481K

Select item 13924120.

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

Abstract Article PDF–118K

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