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Select item 106022941.

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(10): e0293218. Published online 2023 Oct 26. doi: 10.1371/journal.pone.0293218

PMCID:: PMC10602294

Article PDF–9.0M

Select item 73254342.

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

Nozomu Yoshioka, Yudai Kabata, Momona Kuriyama, Norihisa Bizen, Li Zhou, Dang M. Tran, Masato Yano, Atsushi Yoshiki, Tatsuo Ushiki, Thomas J. Sproule, Riichiro Abe, Hirohide Takebayashi

Dis Model Mech. 2020 May 1; 13(5): dmm041608. Published online 2020 May 21. doi: 10.1242/dmm.041608

PMCID:: PMC7325434

Article

Select item 47575443.

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination

Samantha F. Kornfeld, Anisha Lynch-Godrei, Sawyer R. Bonin, Sabrina Gibeault, Yves De Repentigny, Rashmi Kothary

PLoS One. 2016; 11(2): e0149201. Published online 2016 Feb 17. doi: 10.1371/journal.pone.0149201

PMCID:: PMC4757544

Article PDF–13M

Select item 41714954.

BPAG1a and b Associate with EB1 and EB3 and Modulate Vesicular Transport, Golgi Apparatus Structure, and Cell Migration in C2.7 Myoblasts

Kseniia Poliakova, Adijat Adebola, Conrad L. Leung, Bertrand Favre, Ronald K. H. Liem, Isabelle Schepens, Luca Borradori

PLoS One. 2014; 9(9): e107535. Published online 2014 Sep 22. doi: 10.1371/journal.pone.0107535

PMCID:: PMC4171495

Article PDF–6.4M

Select item 39901685.

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

Andrew Ferrier, Tadasu Sato, Yves De Repentigny, Sabrina Gibeault, Kunal Bhanot, Ryan W. O'Meara, Anisha Lynch-Godrei, Samantha F. Kornfeld, Kevin G. Young, Rashmi Kothary

Hum Mol Genet. 2014 May 15; 23(10): 2694–2710. Published online 2013 Dec 30. doi: 10.1093/hmg/ddt663

PMCID:: PMC3990168

Article PDF–2.9M

Select item 32793856.

Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function

Scott D. Ryan, Andrew Ferrier, Tadasu Sato, Ryan W. O'Meara, Yves De Repentigny, Susan X. Jiang, Sheng T. Hou, Rashmi Kothary

Mol Biol Cell. 2012 Feb 15; 23(4): 553–566. doi: 10.1091/mbc.E11-06-0573

PMCID:: PMC3279385

Article PDF–8.6M

Select item 31159777.

Motor Unit Abnormalities in Dystonia musculorum Mice

Yves De Repentigny, Andrew Ferrier, Scott D. Ryan, Tadasu Sato, Rashmi Kothary

PLoS One. 2011; 6(6): e21093. Published online 2011 Jun 15. doi: 10.1371/journal.pone.0021093

PMCID:: PMC3115977

Article PDF–2.7M

Select item 21964508.

The BPAG1 locus: alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles

Conrad L. Leung, Min Zheng, Susan M. Prater, Ronald K.H. Liem

J Cell Biol. 2001 Aug 20; 154(4): 691–698. doi: 10.1083/jcb.200012098

PMCID:: PMC2196450

Article PDF–281K

Select item 93653879.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi

eLife. 2022; 11: e78419. Published online 2022 Aug 9. doi: 10.7554/eLife.78419

PMCID:: PMC9365387

Article PDF–21M

Select item 330869510.

Microtubule stability, Golgi organization, and transport flux require dystonin-a2–MAP1B interaction

Scott D. Ryan, Kunal Bhanot, Andrew Ferrier, Yves De Repentigny, Alphonse Chu, Alexandre Blais, Rashmi Kothary

J Cell Biol. 2012 Mar 19; 196(6): 727–742. doi: 10.1083/jcb.201107096

PMCID:: PMC3308695

Article PDF–4.1M

Select item 283088411.

Hearts of Dystonia musculorum Mice Display Normal Morphological and Histological Features but Show Signs of Cardiac Stress

Justin G. Boyer, Kunal Bhanot, Rashmi Kothary, Céline Boudreau-Larivière

PLoS One. 2010; 5(3): e9465. Published online 2010 Mar 1. doi: 10.1371/journal.pone.0009465

PMCID:: PMC2830884

Article PDF–4.1M

Select item 389716012.

A Transgenic Insertional Inner Ear Mutation on Mouse Chromosome 1

Rick A. Friedman, Yardit Adir, E. Bryan Crenshaw, Allen F. Ryan, Michael G. Rosenfeld

Laryngoscope. Author manuscript; available in PMC 2014 Jan 21.

Published in final edited form as: Laryngoscope. 2000 Apr; 110(4): 489–496. doi: 10.1097/00005537-200004000-00001

PMCID:: PMC3897160

Article PDF–259K

Select item 217351913.

BPAG1n4 is essential for retrograde axonal transport in sensory neurons

Jia-Jia Liu, Jianqing Ding, Anthony S. Kowal, Timothy Nardine, Elizabeth Allen, Jean-Dominique Delcroix, Chengbiao Wu, William Mobley, Elaine Fuchs, Yanmin Yang

J Cell Biol. 2003 Oct 27; 163(2): 223–229. doi: 10.1083/jcb.200306075

PMCID:: PMC2173519

Article PDF–487K

Select item 720622614.

The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis

Katie M. Leick, Anthony B. Rodriguez, Marit M. Melssen, Mouadh Benamar, Robin S. Lindsay, Rebeka Eki, Kang-Ping Du, Mahmut Parlak, Tarek Abbas, Victor H. Engelhard, Craig L. Slingluff, Jr.

Ann Surg. Author manuscript; available in PMC 2020 May 8.

Published in final edited form as: Ann Surg. 2019 Oct; 270(4): 712–722. doi: 10.1097/SLA.0000000000003522

PMCID:: PMC7206226

Article PDF–1.4M

Select item 298277915.

Myogenin and Class II HDACs Control Neurogenic Muscle Atrophy by Inducing E3 Ubiquitin Ligases

Viviana Moresi, Andrew H. Williams, Eric Meadows, Jesse M. Flynn, Matthew J. Potthoff, John McAnally, John M. Shelton, Johannes Backs, William H. Klein, James A. Richardson, Rhonda Bassel-Duby, Eric N. Olson

Cell. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Cell. 2010 Oct 1; 143(1): 35–45. doi: 10.1016/j.cell.2010.09.004

PMCID:: PMC2982779

Article PDF–1.6M

Select item 213291316.

The Intermediate Filament Protein Peripherin Is the Specific Interaction Partner of Mouse BPAG1-n (Dystonin) in Neurons

Conrad L. Leung, Dongming Sun, Ronald K.H. Liem

J Cell Biol. 1999 Feb 8; 144(3): 435–446. doi: 10.1083/jcb.144.3.435

PMCID:: PMC2132913

Article PDF–899K

Select item 189297117.

Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport

Jia-Jia Liu, Jianqing Ding, Chengbiao Wu, Prasanthi Bhagavatula, Bianxiao Cui, Steve Chu, William C. Mobley, Yanmin Yang

Proc Natl Acad Sci U S A. 2007 Feb 13; 104(7): 2223–2228. Published online 2007 Feb 7. doi: 10.1073/pnas.0602222104

PMCID:: PMC1892971

Article PDF–1.1M

Select item 343347518.

Cytoplasmic Plaque Formation in Hemidesmosome Development Is Dependent on SoxF Transcription Factor Function

Shelly Oommen, Mathias Francois, Maiko Kawasaki, Melanie Murrell, Katsushige Kawasaki, Thantrira Porntaveetus, Sarah Ghafoor, Neville J. Young, Yoshimasa Okamatsu, John McGrath, Peter Koopman, Paul T. Sharpe, Atsushi Ohazama

PLoS One. 2012; 7(9): e43857. Published online 2012 Sep 4. doi: 10.1371/journal.pone.0043857