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Items: 1 to 20 of 23

1.
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Hélène Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuellar-Partida, Wei Wang, 23andMe Research Team, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke, Eric Jorgenson
Nat Commun. 2021; 12: 3595. Published online 2021 Jun 14. doi: 10.1038/s41467-021-23873-8
PMCID:
PMC8203611
AbstractArticlePDF–1.9M
2.
Mitochondrial dysfunction in skeletal muscle of fukutin-deficient mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue
W. Michael Southern, Anna S. Nichenko, Anita E. Qualls, Kensey Portman, Ariel Gidon, Aaron M. Beedle, Jarrod A. Call
Exp Physiol. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Exp Physiol. 2020 Oct; 105(10): 1767–1777. Published online 2020 Sep 10. doi: 10.1113/EP088812
PMCID:
PMC7953326
AbstractArticlePDF–1.7M
3.
Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure
Yoshihiro Ujihara, Motoi Kanagawa, Satoshi Mohri, Satomi Takatsu, Kazuhiro Kobayashi, Tatsushi Toda, Keiji Naruse, Yuki Katanosaka
Nat Commun. 2019; 10: 5754. Published online 2019 Dec 17. doi: 10.1038/s41467-019-13623-2
PMCID:
PMC6917736
AbstractArticlePDF–7.7M
4.
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage
Atsushi Sudo, Motoi Kanagawa, Mai Kondo, Chiyomi Ito, Kazuhiro Kobayashi, Mitsuharu Endo, Yasuhiro Minami, Atsu Aiba, Tatsushi Toda
Hum Mol Genet. 2018 Apr 1; 27(7): 1174–1185. Published online 2018 Jan 19. doi: 10.1093/hmg/ddy032
PMCID:
PMC6159531
AbstractArticlePDF–1.7M
5.
LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans
Kei-ichiro Inamori, Aaron M Beedle, Daniel Beltrán-Valero de Bernabé, Michael E Wright, Kevin P Campbell
Glycobiology. 2016 Dec; 26(12): 1284–1296. Published online 2016 Dec 5. doi: 10.1093/glycob/cww075
PMCID:
PMC5137251
AbstractArticlePDF–790K
6.
Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy
Steven J. Foltz, Junna Luan, Jarrod A. Call, Ankit Patel, Kristen B. Peissig, Marisa J. Fortunato, Aaron M. Beedle
Skelet Muscle. 2016; 6: 20. Published online 2016 Jun 2. doi: 10.1186/s13395-016-0091-9
PMCID:
PMC4890530
AbstractArticlePDF–2.6M
7.
Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice
Steven J. Foltz, Jill N. Modi, Garrett A. Melick, Marin I. Abousaud, Junna Luan, Marisa J. Fortunato, Aaron M. Beedle
PLoS One. 2016; 11(1): e0147049. Published online 2016 Jan 11. doi: 10.1371/journal.pone.0147049
PMCID:
PMC4708996
AbstractArticlePDF–26M
8.
Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression
Yoshihisa Ohtsuka, Motoi Kanagawa, Chih-Chieh Yu, Chiyomi Ito, Tomoko Chiyo, Kazuhiro Kobayashi, Takashi Okada, Shin'ichi Takeda, Tatsushi Toda
Sci Rep. 2015; 5: 8316. Published online 2015 Feb 9. doi: 10.1038/srep08316
PMCID:
PMC4321163
AbstractArticlePDF–1.0M
9.
Contribution of Dysferlin Deficiency to Skeletal Muscle Pathology in Asymptomatic and Severe Dystroglycanopathy Models: Generation of a New Model for Fukuyama Congenital Muscular Dystrophy
Motoi Kanagawa, Zhongpeng Lu, Chiyomi Ito, Chie Matsuda, Katsuya Miyake, Tatsushi Toda
PLoS One. 2014; 9(9): e106721. Published online 2014 Sep 8. doi: 10.1371/journal.pone.0106721
PMCID:
PMC4157776
AbstractArticlePDF–9.2M
10.
AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan
Hirokazu Yagi, Naoki Nakagawa, Takuya Saito, Hiroshi Kiyonari, Takaya Abe, Tatsushi Toda, Sz-Wei Wu, Kay-Hooi Khoo, Shogo Oka, Koichi Kato
Sci Rep. 2013; 3: 3288. Published online 2013 Nov 21. doi: 10.1038/srep03288
PMCID:
PMC3836086
AbstractArticlePDF–6.0M
11.
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy
Aaron M. Beedle, Amy J. Turner, Yoshiaki Saito, John D. Lueck, Steven J. Foltz, Marisa J. Fortunato, Patricia M. Nienaber, Kevin P. Campbell
J Clin Invest. 2012 Sep 4; 122(9): 3330–3342. Published online 2012 Aug 27. doi: 10.1172/JCI63004
PMCID:
PMC3428090
AbstractArticlePDF–5.5M
12.
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
Mariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, Chih-chieh Yu, Kouhei Mori, Tetsuya Oda, Atsushi Kuga, Hiroki Kurahashi, Hasan O. Akman, Salvatore DiMauro, Ryuji Kaji, Toshifumi Yokota, Shin’ichi Takeda, Tatsushi Toda
Nature. Author manuscript; available in PMC 2012 Aug 5.
Published in final edited form as: Nature. 2011 Oct 6; 478(7367): 127–131. Published online 2011 Oct 5. doi: 10.1038/nature10456
PMCID:
PMC3412178
AbstractArticlePDF–714K
13.
Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration
Masaji Tachikawa, Motoi Kanagawa, Chih-Chieh Yu, Kazuhiro Kobayashi, Tatsushi Toda
J Biol Chem. 2012 Mar 9; 287(11): 8398–8406. Published online 2012 Jan 24. doi: 10.1074/jbc.M111.300905
PMCID:
PMC3318729
AbstractArticlePDF–1.7M
14.
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
15.
Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies
P. Marius, J.N. Wright, I.S. Findlow, P.T.F. Williamson
Protein Expr Purif. 2010 Jul; 72(1-3): 107–112. doi: 10.1016/j.pep.2010.01.019
PMCID:
PMC2937224
AbstractArticle
16.
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
Motoi Kanagawa, Akemi Nishimoto, Tomohiro Chiyonobu, Satoshi Takeda, Yuko Miyagoe-Suzuki, Fan Wang, Nobuhiro Fujikake, Mariko Taniguchi, Zhongpeng Lu, Masaji Tachikawa, Yoshitaka Nagai, Fumi Tashiro, Jun-Ichi Miyazaki, Youichi Tajima, Shin'ichi Takeda, Tamao Endo, Kazuhiro Kobayashi, Kevin P. Campbell, Tatsushi Toda
Hum Mol Genet. 2009 Feb 15; 18(4): 621–631. Published online 2008 Nov 18. doi: 10.1093/hmg/ddn387
PMCID:
PMC2638827
AbstractArticlePDF–490K
17.
Mice lacking protein phosphatase 5 are defective in ATM-mediated cell cycle arrest
Weidong Yong, Shideng Bao, Hanying Chen, Dapei Li, Edwin R. Sánchez, Weinian Shou
J Biol Chem. Author manuscript; available in PMC 2008 Nov 3.
Published in final edited form as: J Biol Chem. 2007 May 18; 282(20): 14690–14694. Published online 2007 Mar 21. doi: 10.1074/jbc.C700019200
PMCID:
PMC2577320
AbstractArticlePDF–623K
18.
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
ArticlePDF–99K
19.
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
20.
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

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