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Items: 17

1.
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay
Int J Mol Sci. 2023 Nov; 24(22): 16217. Published online 2023 Nov 11. doi: 10.3390/ijms242216217
PMCID:
PMC10671321
AbstractArticlePDF–3.1M
2.
ColQ Controls Postsynaptic Differentiation at the Neuromuscular Junction
Séverine M. Sigoillot, Francine Bourgeois, Monique Lambergeon, Laure Strochlic, Claire Legay
J Neurosci. 2010 Jan 6; 30(1): 13–23. doi: 10.1523/JNEUROSCI.4374-09.2010
PMCID:
PMC6632527
AbstractArticlePDF–1.5M
3.
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
Grace M McMacken, Sally Spendiff, Roger G Whittaker, Emily O’Connor, Rachel M Howarth, Veronika Boczonadi, Rita Horvath, Clarke R Slater, Hanns Lochmüller
Hum Mol Genet. 2019 Jul 15; 28(14): 2339–2351. Published online 2019 Apr 1. doi: 10.1093/hmg/ddz059
PMCID:
PMC6606850
AbstractArticlePDF–27M
4.
Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters
Kenyu Ito, Bisei Ohkawara, Hideki Yagi, Hiroaki Nakashima, Mikito Tsushima, Kyotaro Ota, Hiroyuki Konishi, Akio Masuda, Shiro Imagama, Hiroshi Kiyama, Naoki Ishiguro, Kinji Ohno
Sci Rep. 2018; 8: 434. Published online 2018 Jan 11. doi: 10.1038/s41598-017-18753-5
PMCID:
PMC5765005
AbstractArticlePDF–7.5M
5.
Distinct localization of Collagen Q and PRiMA forms of Acetylcholinesterase at the neuromuscular junction
Véronique Bernard, Emmanuelle Girard, Anna Hrabovska, Shelley Camp, Palmer Taylor, Benoit Plaud, Eric Krejci
Mol Cell Neurosci. Author manuscript; available in PMC 2016 Feb 16.
Published in final edited form as: Mol Cell Neurosci. 2011 Jan; 46(1): 272–281. Published online 2010 Sep 29. doi: 10.1016/j.mcn.2010.09.010
PMCID:
PMC4755503
AbstractArticlePDF–2.6M
6.
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
AbstractArticlePDF–1.1M
7.
The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices
Alexandra Naba, Karl R. Clauser, Sebastian Hoersch, Hui Liu, Steven A. Carr, Richard O. Hynes
Mol Cell Proteomics. 2012 Apr; 11(4): M111.014647. Published online 2011 Dec 9. doi: 10.1074/mcp.M111.014647
PMCID:
PMC3322572
AbstractArticlePDF–7.3M
8.
Acetylcholinesterase Associates Differently with Its Anchoring Proteins ColQ and PRiMA
Hiba Noureddine, Stéphanie Carvalho, Claudine Schmitt, Jean Massoulié, Suzanne Bon
J Biol Chem. 2008 Jul 25; 283(30): 20722–20732. doi: 10.1074/jbc.M801364200
PMCID:
PMC3258952
AbstractArticlePDF–574K
9.
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
10.
MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction
Annie Cartaud, Laure Strochlic, Manuel Guerra, Benoît Blanchard, Monique Lambergeon, Eric Krejci, Jean Cartaud, Claire Legay
J Cell Biol. 2004 May 24; 165(4): 505–515. doi: 10.1083/jcb.200307164
PMCID:
PMC2172359
AbstractArticlePDF–2.0M
11.
Genetic Analysis of Collagen Q: Roles in Acetylcholinesterase and Butyrylcholinesterase Assembly and in Synaptic Structure and Function
Guoping Feng, Eric Krejci, Jordi Molgo, Jeanette M. Cunningham, Jean Massoulié, Joshua R. Sanes
J Cell Biol. 1999 Mar 22; 144(6): 1349–1360. doi: 10.1083/jcb.144.6.1349
PMCID:
PMC2150590
AbstractArticlePDF–617K
12.
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
AbstractArticlePDF–140K
13.
Targeting a Complex Transcriptome: The Construction of the Mouse Full-Length cDNA Encyclopedia
Piero Carninci, Kazunori Waki, Toshiyuki Shiraki, Hideaki Konno, Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Takahiro Arakawa, Yoshiyuki Ishii, Daisuke Sasaki, Hidemasa Bono, Shinji Kondo, Yuichi Sugahara, Rintaro Saito, Naoki Osato, Shiro Fukuda, Kenjiro Sato, Akira Watahiki, Tomoko Hirozane-Kishikawa, Mari Nakamura, Yuko Shibata, Ayako Yasunishi, Noriko Kikuchi, Atsushi Yoshiki, Moriaki Kusakabe, Stefano Gustincich, Kirk Beisel, William Pavan, Vassilis Aidinis, Akira Nakagawara, William A. Held, Hiroo Iwata, Tomohiro Kono, Hiromitsu Nakauchi, Paul Lyons, Christine Wells, David A. Hume, Michela Fagiolini, Takao K. Hensch, Michelle Brinkmeier, Sally Camper, Junji Hirota, Peter Mombaerts, Masami Muramatsu, Yasushi Okazaki, Jun Kawai, Yoshihide Hayashizaki
Genome Res. 2003 Jun; 13(6b): 1273–1289. doi: 10.1101/gr.1119703
PMCID:
PMC403712
AbstractArticlePDF–770K
14.
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
15.
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
16.
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
17.
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
Kinji Ohno, Joan Brengman, Akira Tsujino, Andrew G. Engel
Proc Natl Acad Sci U S A. 1998 Aug 4; 95(16): 9654–9659. doi: 10.1073/pnas.95.16.9654
PMCID:
PMC21394
AbstractArticlePDF–281K

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