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Select item 84219821.

Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8

Elyse M. Salpeter, Brian C. Leonard, Antonio J. Lopez, Christopher J. Murphy, Sara Thomasy, Denise M. Imai, Kristin Grimsrud, K. C. Kent Lloyd, Jiong Yan, Rossana Sanchez Russo, Suma P. Shankar, Ala Moshiri

Ann Transl Med. 2021 Aug; 9(15): 1274. doi: 10.21037/atm-20-4739

PMCID:: PMC8421982

Article PDF–4.4M

Select item 10874902.

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

Liina Lonka, Antti Aalto, Outi Kopra, Mervi Kuronen, Zaal Kokaia, Mart Saarma, Anna-Elina Lehesjoki

BMC Neurosci. 2005; 6: 27. Published online 2005 Apr 13. doi: 10.1186/1471-2202-6-27

PMCID:: PMC1087490

Article PDF–1.6M

Select item 67722563.

Early and Selective Loss of Neuromuscular Synapse Subtypes with Low Sprouting Competence in Motoneuron Diseases

Dunja Frey, Corinna Schneider, Lan Xu, Jacques Borg, Will Spooren, Pico Caroni

J Neurosci. 2000 Apr 1; 20(7): 2534–2542. doi: 10.1523/JNEUROSCI.20-07-02534.2000

PMCID:: PMC6772256

Article PDF–1000K

Select item 62772104.

CLN8 is an ER cargo receptor that regulates lysosome biogenesis

Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, Deepthi Sanagasetti, Parisa Lotfi, Carolyn Joy Adamski, John Collette, Michela Palmieri, Abdallah Amawi, Lauren Popp, Kevin Tommy Chang, Maria Chiara Meschini, Hon-Chiu Eastwood Leung, Laura Segatori, Alessandro Simonati, Richard Norman Sifers, Filippo Maria Santorelli, Marco Sardiello

Nat Cell Biol. Author manuscript; available in PMC 2019 May 5.

Published in final edited form as: Nat Cell Biol. 2018 Dec; 20(12): 1370–1377. Published online 2018 Nov 5. doi: 10.1038/s41556-018-0228-7

PMCID:: PMC6277210

Article PDF–2.7M

Select item 18872375.

Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis.

C. A. Pardo, B. A. Rabin, D. N. Palmer, D. L. Price

Am J Pathol. 1994 Apr; 144(4): 829–835.

PMCID:: PMC1887237

Summary Page Browse PDF–2.5M

Select item 67860696.

Apparent Loss and Hypertrophy of Interneurons in a Mouse Model of Neuronal Ceroid Lipofuscinosis: Evidence for Partial Response to Insulin-Like Growth Factor-1 Treatment

Jonathan D. Cooper, Anne Messer, Andrew K. Feng, Jane Chua-Couzens, William C. Mobley

J Neurosci. 1999 Apr 1; 19(7): 2556–2567. doi: 10.1523/JNEUROSCI.19-07-02556.1999

PMCID:: PMC6786069

Article PDF–997K

Select item 74100547.

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

Article PDF–8.5M

Select item 27904438.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

Annina Lyly, Carina von Schantz, Claudia Heine, Mia-Lisa Schmiedt, Tessa Sipilä, Anu Jalanko, Aija Kyttälä

BMC Cell Biol. 2009; 10: 83. Published online 2009 Nov 26. doi: 10.1186/1471-2121-10-83

PMCID:: PMC2790443

Article PDF–2.0M

Select item 29687149.

Mouse Model Resources for Vision Research

Jungyeon Won, Lan Ying Shi, Wanda Hicks, Jieping Wang, Ronald Hurd, Jürgen K. Naggert, Bo Chang, Patsy M. Nishina

J Ophthalmol. 2011; 2011: 391384. Published online 2010 Oct 31. doi: 10.1155/2011/391384

PMCID:: PMC2968714

Article PDF–5.7M

Select item 722702810.

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

Article PDF–5.4M

Select item 268625211.

The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis

Stephen N. Sansom, Dean S. Griffiths, Andrea Faedo, Dirk-Jan Kleinjan, Youlin Ruan, James Smith, Veronica van Heyningen, John L. Rubenstein, Frederick J. Livesey

PLoS Genet. 2009 Jun; 5(6): e1000511. Published online 2009 Jun 12. doi: 10.1371/journal.pgen.1000511

PMCID:: PMC2686252

Article PDF–4.5M

Select item 31111912.

Construction of Long-Transcript Enriched cDNA Libraries from Submicrogram Amounts of Total RNAs by a Universal PCR Amplification Method

Yulan Piao, Naomi T. Ko, Meng K. Lim, Minoru S.H. Ko

Genome Res. 2001 Sep; 11(9): 1553–1558. doi: 10.1101/gr.185501

PMCID:: PMC311119

Article PDF–743K

Select item 741599113.

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

Article PDF–2.0M

Select item 141356814.

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 255627015.

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

Article PDF–493K

Select item 1091766016.

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

Article PDF–4.8M

Select item 28355417.

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

Article PDF–481K

Select item 302253418.

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

Article PDF–3.8M

Select item 52892819.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

Select item 31099220.

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

Article PDF–3.4M

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