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Items: 1 to 20 of 27

1.
Base editing repairs an SGCA mutation in human primary muscle stem cells
Helena Escobar, Anne Krause, Sandra Keiper, Janine Kieshauer, Stefanie Müthel, Manuel García de Paredes, Eric Metzler, Ralf Kühn, Florian Heyd, Simone Spuler
JCI Insight. 2021 May 24; 6(10): e145994. Published online 2021 May 24. doi: 10.1172/jci.insight.145994
PMCID:
PMC8262330
AbstractArticlePDF–3.5M
2.
A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt
Hemakumar M. Reddy, Sherifa A. Hamed, Monkol Lek, Satomi Mitsuhashi, Elicia Estrella, Michael D. Jones, Lane J. Mahoney, Anna R. Duncan, Kyungah Cho, Daniel G. MacArthur, Louis M. Kunkel, Peter B. Kang
Muscle Nerve. Author manuscript; available in PMC 2017 Jun 1.
Published in final edited form as: Muscle Nerve. 2016 Oct; 54(4): 690–695. Published online 2016 Aug 24. doi: 10.1002/mus.25094
PMCID:
PMC5453499
AbstractArticlePDF–449K
3.
Reduced Glycosylation of α-Dystroglycans on Carcinoma Cells Contributes to Formation of Highly Infiltrative Histological Patterns in Prostate Cancer
Hisashi Shimojo, Motohiro Kobayashi, Takayuki Kamigaito, Yasuyo Shimojo, Minoru Fukuda, Jun Nakayama
Prostate. Author manuscript; available in PMC 2012 Feb 2.
Published in final edited form as: Prostate. 2011 Aug 1; 71(11): 1151–1157. Published online 2011 Jan 12. doi: 10.1002/pros.21330
PMCID:
PMC3174275
AbstractArticlePDF–1.3M
4.
Sustained alpha-sarcoglycan gene expression following gene transfer in LGMD2D
Jerry R. Mendell, Louise R. Rodino-Klapac, Xiomara Q. Rosales, Brian D. Coley, Gloria Galloway, Sarah Lewis, Vinod Malik, Chris Shilling, Barry J. Byrne, Thomas Conlon, Katherine J. Campbell, William G. Bremer, Laura E. Taylor, Kevin M. Flanigan, Janaiah Kota, Zarife Sahenk, Christopher M. Walker, K. Reed Clark
Ann Neurol. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 629–638. doi: 10.1002/ana.22251
PMCID:
PMC2970162
AbstractArticlePDF–1.4M
5.
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
H Kawai, M Akaike, T Endo, K Adachi, T Inui, T Mitsui, S Kashiwagi, T Fujiwara, S Okuno, S Shin, et al.
J Clin Invest. 1995 Sep; 96(3): 1202–1207. doi: 10.1172/JCI118152
PMCID:
PMC185739
SummaryPage BrowsePDF–1.2M
6.
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
E M McNally, M Yoshida, Y Mizuno, E Ozawa, L M Kunkel
Proc Natl Acad Sci U S A. 1994 Oct 11; 91(21): 9690–9694. doi: 10.1073/pnas.91.21.9690
PMCID:
PMC44882
SummaryPage BrowsePDF–1.2M
7.
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease
Josef Voglmeir, Sara Kaloo, Nicolas Laurent, Marco M. Meloni, Lisa Bohlmann, Iain B. H. Wilson, Sabine L. Flitsch
Biochem J. 2011 Jun 1; 436(Pt 2): 447–455. Prepublished online 2011 Mar 1. Published online 2011 May 13. doi: 10.1042/BJ20101059
PMCID:
PMC3133881
AbstractArticlePDF–1.1M
8.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
A Carrié, F Piccolo, F Leturcq, C de Toma, K Azibi, C Beldjord, J M Vallat, L Merlini, T Voit, C Sewry, J A Urtizberea, N Romero, F M Tomé, M Fardeau, Y Sunada, K P Campbell, J C Kaplan, M Jeanpierre
J Med Genet. 1997 Jun; 34(6): 470–475. doi: 10.1136/jmg.34.6.470
PMCID:
PMC1050969
SummaryPage BrowsePDF–1.2M
9.
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D
Elisa Bianchini, Marina Fanin, Kamel Mamchaoui, Romeo Betto, Dorianna Sandonà
Hum Mol Genet. 2014 Jul 15; 23(14): 3746–3758. Published online 2014 Feb 23. doi: 10.1093/hmg/ddu088
PMCID:
PMC4065151
AbstractArticlePDF–763K
10.
GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos
A.E. Sanders, D. Jain, T. Sofer, K.F. Kerr, C.C. Laurie, J.R. Shaffer, M.L. Marazita, L.M. Kaste, G.D. Slade, R.B. Fillingim, R. Ohrbach, W. Maixner, T. Kocher, O. Bernhardt, A. Teumer, C. Schwahn, K. Sipilä, R. Lähdesmäki, M. Männikkö, P. Pesonen, M. Järvelin, C.M. Rizzatti-Barbosa, C.B. Meloto, M. Ribeiro-Dasilva, L. Diatchenko, P. Serrano, S.B. Smith
J Dent Res. 2017 Mar; 96(3): 277–284. Published online 2017 Jan 12. doi: 10.1177/0022034516686562
PMCID:
PMC5298397
AbstractArticlePDF–596K
11.
Biglycan binds to α– and γ– sarcoglycan and regulates their expression during development
Michael S. Rafii, Hiroki Hagiwara, Mary Lynn Mercado, Neung S. Seo, Tianshun Xu, Tracey Dugan, Rick T. Owens, Magnus Hook, David J. McQuillan, Marian F. Young, Justin R. Fallon
J Cell Physiol. Author manuscript; available in PMC 2010 Aug 30.
Published in final edited form as: J Cell Physiol. 2006 Nov; 209(2): 439–447. doi: 10.1002/jcp.20740
PMCID:
PMC2929672
AbstractArticlePDF–636K
12.
The Small Leucine-Rich Repeat Proteoglycan Biglycan Binds to α-Dystroglycan and Is Upregulated in Dystrophic Muscle
Mark A. Bowe, Duane B. Mendis, Justin R. Fallon
J Cell Biol. 2000 Feb 21; 148(4): 801–810. doi: 10.1083/jcb.148.4.801
PMCID:
PMC2169361
AbstractArticlePDF–275K
13.
B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan
Jeremy L Praissman, David H Live, Shuo Wang, Annapoorani Ramiah, Zoeisha S Chinoy, Geert-Jan Boons, Kelley W Moremen, Lance Wells
eLife. 2014; 3: e03943. Published online 2014 Oct 3. doi: 10.7554/eLife.03943
PMCID:
PMC4227051
AbstractArticlePDF–1.5M
14.
Mice Lacking Dystrophin or α Sarcoglycan Spontaneously Develop Embryonal Rhabdomyosarcoma with Cancer-Associated p53 Mutations and Alternatively Spliced or Mutant Mdm2 Transcripts
Karen Fernandez, Yelda Serinagaoglu, Sue Hammond, Laura T. Martin, Paul T. Martin
Am J Pathol. 2010 Jan; 176(1): 416–434. doi: 10.2353/ajpath.2010.090405
PMCID:
PMC2797901
AbstractArticlePDF–3.5M
15.
Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture
Yiu-mo Chan, Carsten G. Bönnemann, Hart G.W. Lidov, Louis M. Kunkel
J Cell Biol. 1998 Dec 28; 143(7): 2033–2044. doi: 10.1083/jcb.143.7.2033
PMCID:
PMC2175228
AbstractArticlePDF–1.1M
16.
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
AbstractArticlePDF–1.7M
17.
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal
Cell. Author manuscript; available in PMC 2016 Apr 23.
Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013
PMCID:
PMC4441215
AbstractArticlePDF–1.2M
18.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M
19.
Leveraging the power of next-generation sequencing to generate interactome datasets
Haiyuan Yu, Leah Tardivo, Stanley Tam, Evan Weiner, Fana Gebreab, Changyu Fan, Nenad Svrzikapa, Tomoko Hirozane-Kishikawa, Edward Rietman, Xinping Yang, Julie Sahalie, Kourosh Salehi-Ashtiani, Tong Hao, Michael E. Cusick, David E. Hill, Frederick P. Roth, Pascal Braun, Marc Vidal
Nat Methods. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Nat Methods. 2011 Jun; 8(6): 478–480. Published online 2011 Apr 24. doi: 10.1038/nmeth.1597
PMCID:
PMC3188388
AbstractArticlePDF–932K
20.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M

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