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Select item 99174251.

N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

Hidehiko Okuma, Jeffrey M Hord, Ishita Chandel, David Venzke, Mary E Anderson, Ameya S Walimbe, Soumya Joseph, Zeita Gastel, Yuji Hara, Fumiaki Saito, Kiichiro Matsumura, Kevin P Campbell

eLife. 2023; 12: e82811. Published online 2023 Feb 1. doi: 10.7554/eLife.82811

PMCID:: PMC9917425

Abstract Article PDF–2.9M

Select item 91324452.

Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival

Takahiro Yonekawa, Adam J. Rauckhorst, Sara El-Hattab, Marco A. Cuellar, David Venzke, Mary E. Anderson, Hidehiko Okuma, Alvin D. Pewa, Eric B. Taylor, Kevin P. Campbell

Sci Adv. 2022 May; 8(21): eabn0379. Published online 2022 May 25. doi: 10.1126/sciadv.abn0379

PMCID:: PMC9132445

Abstract Article PDF–711K

Select item 83132393.

Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development

Francesco Bedogni, Robert F. Hevner

Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034

PMCID:: PMC8313239

Abstract Article PDF–1.6M

Select item 82462634.

Saturation mutagenesis defines novel mouse models of severe spine deformity

Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise

Dis Model Mech. 2021 Jun 1; 14(6): dmm048901. Published online 2021 Jun 18. doi: 10.1242/dmm.048901

PMCID:: PMC8246263

Abstract Article

Select item 80290815.

Degree of Cajal–Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy

Helen S. Booler, Josie L. Williams, Mark Hopkinson, Susan C. Brown

Brain Pathol. 2016 Jul; 26(4): 465–478. Published online 2015 Oct 12. doi: 10.1111/bpa.12306

PMCID:: PMC8029081

Abstract Article PDF–5.8M

Select item 75568766.

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

Ameya S Walimbe, Hidehiko Okuma, Soumya Joseph, Tiandi Yang, Takahiro Yonekawa, Jeffrey M Hord, David Venzke, Mary E Anderson, Silvia Torelli, Adnan Manzur, Megan Devereaux, Marco Cuellar, Sally Prouty, Saul Ocampo Landa, Liping Yu, Junyu Xiao, Jack E Dixon, Francesco Muntoni, Kevin P Campbell

eLife. 2020; 9: e61388. Published online 2020 Sep 25. doi: 10.7554/eLife.61388

PMCID:: PMC7556876

Abstract Article PDF–5.6M

Select item 72744867.

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

Shigefumi Morioka, Hirofumi Sakaguchi, Hiroaki Mohri, Mariko Taniguchi-Ikeda, Motoi Kanagawa, Toshiaki Suzuki, Yuko Miyagoe-Suzuki, Tatsushi Toda, Naoaki Saito, Takehiko Ueyama

PLoS Genet. 2020 May; 16(5): e1008826. Published online 2020 May 26. doi: 10.1371/journal.pgen.1008826

PMCID:: PMC7274486

Abstract Article PDF–4.3M

Select item 72270288.

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 67068669.

Response properties of slow PIII in the Large^vls mutant

Neal S. Peachey, Gwen M. Sturgill-Short

Doc Ophthalmol. Author manuscript; available in PMC 2019 Aug 23.

Published in final edited form as: Doc Ophthalmol. 2012 Dec; 125(3): 203–209. Published online 2012 Aug 4. doi: 10.1007/s10633-012-9347-9

PMCID:: PMC6706866

Abstract Article PDF–852K

Select item 669418810.

Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies

Antonio F. Ribeiro, Jr., Lucas S. Souza, Camila F. Almeida, Renata Ishiba, Stephanie A. Fernandes, Danielle A. Guerrieri, André L. F. Santos, Paula C. G. Onofre-Oliveira, Mariz Vainzof

Sci Rep. 2019; 9: 11842. Published online 2019 Aug 14. doi: 10.1038/s41598-019-48156-7

PMCID:: PMC6694188

Abstract Article PDF–3.7M

Select item 667362611.

The Neonatal Ventromedial Hypothalamus Transcriptome Reveals Novel Markers with Spatially Distinct Patterning

Deborah M. Kurrasch, Clement C. Cheung, Florence Y. Lee, Phu V. Tran, Kenji Hata, Holly A. Ingraham

J Neurosci. 2007 Dec 12; 27(50): 13624–13634. doi: 10.1523/JNEUROSCI.2858-07.2007

PMCID:: PMC6673626

Abstract Article PDF–638K

Select item 657808012.

Impaired peripheral nerve regeneration in a mutant strain of mice (Enr) with a Schwann cell defect

EM Rath, D Kelly, TW Bouldin, B Popko

J Neurosci. 1995 Nov 1; 15(11): 7226–7237. doi: 10.1523/JNEUROSCI.15-11-07226.1995

PMCID:: PMC6578080

Abstract PDF–3.3M

Select item 657684013.

Autosomal recessive neuromuscular disorder in a transgenic line of mice

D Kelly, K Chancellor, A Milatovich, U Francke, K Suzuki, B Popko

J Neurosci. 1994 Jan 1; 14(1): 198–207. doi: 10.1523/JNEUROSCI.14-01-00198.1994

PMCID:: PMC6576840

Abstract PDF–3.4M

Select item 615953114.

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

Abstract Article PDF–1.7M

Select item 614228115.

LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory

Bo Am Seo, Taesup Cho, Daniel Z. Lee, Joong-jae Lee, Boyoung Lee, Seong-Wook Kim, Hee-Sup Shin, Myoung-Goo Kang

Proc Natl Acad Sci U S A. 2018 Jul 3; 115(27): 7111–7116. Published online 2018 Jun 18. doi: 10.1073/pnas.1805060115

PMCID:: PMC6142281

Abstract Article PDF–1.5M

Select item 594484016.

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

Charlotte Whitmore, Marta Fernandez-Fuente, Helen Booler, Callum Parr, Manoli Kavishwar, Attia Ashraf, Erica Lacey, Jihee Kim, Rebecca Terry, Mark R. Ackroyd, Kim E. Wells, Francesco Muntoni, Dominic J. Wells, Susan C. Brown

Hum Mol Genet. Author manuscript; available in PMC 2018 May 10.

Published in final edited form as: Hum Mol Genet. 2014 Apr 1; 23(7): 1842–1855. Published online 2013 Nov 13. doi: 10.1093/hmg/ddt577

PMCID:: PMC5944840

Abstract Article PDF–3.6M

Select item 496517217.

Transgenic Rescue of the LARGE_myd Mouse: A LARGE Therapeutic Window?

J. C. W. Hildyard, E. Lacey, H. Booler, M. Hopkinson, D. J. Wells, S. C. Brown

PLoS One. 2016; 11(7): e0159853. Published online 2016 Jul 28. doi: 10.1371/journal.pone.0159853

PMCID:: PMC4965172

Abstract Article PDF–4.3M

Select item 433939518.

Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Large^myd and mdx/Large^myd

Aurea B. Martins-Bach, Jackeline Malheiros, Béatrice Matot, Poliana C. M. Martins, Camila F. Almeida, Waldir Caldeira, Alberto F. Ribeiro, Paulo Loureiro de Sousa, Noura Azzabou, Alberto Tannús, Pierre G. Carlier, Mariz Vainzof

PLoS One. 2015; 10(2): e0117835. Published online 2015 Feb 24. doi: 10.1371/journal.pone.0117835

PMCID:: PMC4339395

Abstract Article PDF–3.1M

Select item 432116319.

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

Abstract Article PDF–1.0M

Select item 431955920.

A high resolution spatiotemporal atlas of gene expression of the developing mouse brain

Carol L. Thompson, Lydia Ng, Vilas Menon, Salvador Martinez, Chang-Kyu Lee, Katie Glattfelder, Susan M. Sunkin, Alex Henry, Christopher Lau, Chinh Dang, Raquel Garcia-Lopez, Almudena Martinez-Ferre, Ana Pombero, John L.R. Rubenstein, Wayne B. Wakeman, John Hohmann, Nick Dee, Andrew J. Sodt, Rob Young, Kimberly Smith, Thuc-Nghi Nguyen, Jolene Kidney, Leonard Kuan, Andreas Jeromin, Ajamete Kaykas, Jeremy Miller, Damon Page, Geri Orta, Amy Bernard, Zackery Riley, Simon Smith, Paul Wohnoutka, Mike Hawrylycz, Luis Puelles, Allan R. Jones

Neuron. Author manuscript; available in PMC 2015 Jul 16.

Published in final edited form as: Neuron. 2014 Jul 16; 83(2): 309–323. Published online 2014 Jun 19. doi: 10.1016/j.neuron.2014.05.033

PMCID:: PMC4319559

Abstract Article PDF–3.0M

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