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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 74100542.

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, Pengcheng Zhang, Aiden Eblimit, Rituraj Pal, Dany Roman, John R. Collette, Clarissa Booth, Kevin T. Chang, Richard N. Sifers, Sung Y. Jung, Jill M. Weimer, Rui Chen, Randy W. Schekman, Marco Sardiello

J Clin Invest. 2020 Aug 3; 130(8): 4118–4132. Published online 2020 Jun 29. doi: 10.1172/JCI130955

PMCID:: PMC7410054

Abstract Article PDF–8.5M

Select item 72270283.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 59939394.

Prevention of Photoreceptor Cell Loss in a Cln6^nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

Sophia-Martha kleine Holthaus, Joana Ribeiro, Laura Abelleira-Hervas, Rachael A. Pearson, Yanai Duran, Anastasios Georgiadis, Robert D. Sampson, Matteo Rizzi, Justin Hoke, Ryea Maswood, Selina Azam, Ulrich F.O. Luhmann, Alexander J. Smith, Sara E. Mole, Robin R. Ali

Mol Ther. 2018 May 2; 26(5): 1343–1353. Published online 2018 Mar 2. doi: 10.1016/j.ymthe.2018.02.027

PMCID:: PMC5993939

Abstract Article PDF–3.5M

Select item 56656435.

CHIP as a membrane-shuttling proteostasis sensor

Yannick Kopp, Wei-Han Lang, Tobias B Schuster, Adrián Martínez-Limón, Harald F Hofbauer, Robert Ernst, Giulia Calloni, R Martin Vabulas

eLife. 2017; 6: e29388. Published online 2017 Nov 1. doi: 10.7554/eLife.29388

PMCID:: PMC5665643

Abstract Article PDF–2.2M

Select item 53812266.

Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function

Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang

Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626

PMCID:: PMC5381226

Abstract Article PDF–1.4M

Select item 52958217.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 44390908.

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

Wanda Jankowiak, Katharina Kruszewski, Kai Flachsbarth, Christos Skevas, Gisbert Richard, Klaus Rüther, Thomas Braulke, Udo Bartsch

PLoS One. 2015; 10(5): e0127204. Published online 2015 May 20. doi: 10.1371/journal.pone.0127204

PMCID:: PMC4439090

Abstract Article PDF–6.6M

Select item 41139049.

Protein Product of CLN6 Gene Responsible for Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Interacts with CRMP-2

Jared W. Benedict, Amanda L. Getty, Thomas M. Wishart, Thomas H. Gillingwater, David A. Pearce

J Neurosci Res. Author manuscript; available in PMC 2014 Jul 29.

Published in final edited form as: J Neurosci Res. 2009 Jul; 87(9): 2157–2166. doi: 10.1002/jnr.22032

PMCID:: PMC4113904

Abstract Article PDF–750K

Select item 381521210.

A Murine Model of Variant Late Infantile Ceroid Lipofuscinosis Recapitulates Behavioral and Pathological Phenotypes of Human Disease

Jeremy P. Morgan, Helen Magee, Andrew Wong, Tarah Nelson, Bettina Koch, Jonathan D. Cooper, Jill M. Weimer

PLoS One. 2013; 8(11): e78694. Published online 2013 Nov 1. doi: 10.1371/journal.pone.0078694

PMCID:: PMC3815212

Abstract Article PDF–1.5M

Select item 379085011.

Progressive Retinal Degeneration and Glial Activation in the CLN6^nclf Mouse Model of Neuronal Ceroid Lipofuscinosis: A Beneficial Effect of DHA and Curcumin Supplementation

Myriam Mirza, Cornelia Volz, Marcus Karlstetter, Monica Langiu, Aleksandra Somogyi, Mika O. Ruonala, Ernst R. Tamm, Herbert Jägle, Thomas Langmann

PLoS One. 2013; 8(10): e75963. Published online 2013 Oct 4. doi: 10.1371/journal.pone.0075963

Correction in:: PLoS One. 2013; 8(10): 10.1371/annotation/ae907882-62e0-4803-8c00-35b30a649fe9.

PMCID:: PMC3790850

Abstract Article PDF–3.6M

Select item 368316612.

Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis

Katja M. Kanninen, Alexandra Grubman, Aphrodite Caragounis, Clare Duncan, Sarah J. Parker, Grace E. Lidgerwood, Irene Volitakis, George Ganio, Peter J. Crouch, Anthony R. White

Biol Open. 2013 Jun 15; 2(6): 635–646. Published online 2013 May 20. doi: 10.1242/bio.20134804

PMCID:: PMC3683166

Abstract Article PDF–930K

Select item 357241013.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 336884214.

Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

John F. Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M. Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S. Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C. Wheeler, Rose-Mary Boustany, Diane E. Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L. Cotman

PLoS One. 2012; 7(6): e38310. Published online 2012 Jun 6. doi: 10.1371/journal.pone.0038310

PMCID:: PMC3368842

Abstract Article PDF–4.3M

Select item 333500515.

Disruption of the Autophagy-Lysosome Pathway Is Involved in Neuropathology of the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

Melanie Thelen, Markus Daμμe, Michaela Schweizer, Christian Hagel, Andrew M.S. Wong, Jonathan D. Cooper, Thomas Braulke, Giovanna Galliciotti

PLoS One. 2012; 7(4): e35493. Published online 2012 Apr 20. doi: 10.1371/journal.pone.0035493

Correction in:: PLoS One. 2012; 7(5): 10.1371/annotation/a4b06d46-8eb9-4d15-a15a-41bf4b5ccb8b.

PMCID:: PMC3335005

Abstract Article PDF–3.1M

Select item 317805916.

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 275813817.

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

Catherine Kielar, Thomas M. Wishart, Alice Palmer, Sybille Dihanich, Andrew M. Wong, Shannon L. Macauley, Chun-Hung Chan, Mark S. Sands, David A. Pearce, Jonathan D. Cooper, Thomas H. Gillingwater

Hum Mol Genet. 2009 Nov 1; 18(21): 4066–4080. Published online 2009 Jul 29. doi: 10.1093/hmg/ddp355

PMCID:: PMC2758138

Abstract Article PDF–595K

Select item 141356818.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 43978319.

Genomic Analysis of Mouse Retinal Development

Seth Blackshaw, Sanjiv Harpavat, Jeff Trimarchi, Li Cai, Haiyan Huang, Winston P Kuo, Griffin Weber, Kyungjoon Lee, Rebecca E Fraioli, Seo-Hee Cho, Rachel Yung, Elizabeth Asch, Lucila Ohno-Machado, Wing H Wong, Constance L Cepko

PLoS Biol. 2004 Sep; 2(9): e247. Published online 2004 Jun 29. doi: 10.1371/journal.pbio.0020247

PMCID:: PMC439783

Abstract Article PDF–975K

Select item 38492720.

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth E. Williams, Sara E. Mole

Am J Hum Genet. 2002 Feb; 70(2): 537–542. Published online 2001 Nov 27. doi: 10.1086/338708

PMCID:: PMC384927

Abstract Article PDF–389K

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