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Items: 1 to 20 of 76

1.
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal
Orphanet J Rare Dis. 2024; 19: 140. Published online 2024 Apr 1. doi: 10.1186/s13023-024-03158-1
PMCID:
PMC10983654
AbstractArticlePDF–2.3M
2.
Mitochondrial Raf1 Regulates Glutamine Catabolism
Ronald L. Shanderson, Ian D. Ferguson, Zurab Siprashvili, Luca Ducoli, Albert M. Li, Weili Miao, Suhas Srinivasan, Mary Grace Velasco, Yang Li, Jiangbin Ye, Paul A. Khavari
Version 1. bioRxiv. Preprint. 2024 Mar 9. doi: 10.1101/2024.03.08.581297
PMCID:
PMC10942467
AbstractArticlePDF–6.5M
3.
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
Neurogenetics. 2023; 24(4): 273–278. Published online 2023 Aug 17. doi: 10.1007/s10048-023-00728-6
PMCID:
PMC10545561
AbstractArticlePDF–630K
4.
Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation
Stefan G. Wette, Graham D. Lamb, Robyn M. Murphy
Int J Mol Sci. 2023 Jun; 24(11): 9405. Published online 2023 May 28. doi: 10.3390/ijms24119405
PMCID:
PMC10253552
AbstractArticlePDF–2.3M
5.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
6.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
7.
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz
Orphanet J Rare Dis. 2020; 15: 119. Published online 2020 May 24. doi: 10.1186/s13023-020-01372-1
PMCID:
PMC7245871
AbstractArticlePDF–2.8M
8.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
9.
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC
Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.
PMCID:
PMC6859413
AbstractArticlePDF–291K
10.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano
Ann Clin Transl Neurol. 2019 Nov; 6(11): 2328–2333. Published online 2019 Oct 14. doi: 10.1002/acn3.50910
PMCID:
PMC6856619
AbstractArticlePDF–874K
11.
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi
Int J Mol Sci. 2019 Sep; 20(18): 4548. Published online 2019 Sep 13. doi: 10.3390/ijms20184548
PMCID:
PMC6770289
AbstractArticlePDF–2.6M
12.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
13.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
14.
Combined treatment of human multiple myeloma cells with bortezomib and doxorubicin alters the interactome of 20S proteasomes
Alexey G. Mittenberg, Valeria O. Kuzyk, Sergey V. Shabelnikov, Daria P. Gorbach, Alla N. Shatrova, Olga A. Fedorova, Nickolai A. Barlev
Cell Cycle. 2018; 17(14): 1745–1756. Published online 2018 Aug 1. doi: 10.1080/15384101.2018.1496742
PMCID:
PMC6133333
AbstractArticlePDF–1.7M
15.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
16.
AUTOSOMAL DOMINANT CALPAINOPATHY DUE TO HETEROZYGOUS CAPN3 C.643_663DEL21
JENNIFER M. MARTINEZ-THOMPSON, ZHIYV NIU, JENNIFER A. TRACY, STEVEN A. MOORE, ANDREA SWENSON, ERIC D. WIEBEN, MARGHERITA MILONE
Muscle Nerve. Author manuscript; available in PMC 2018 Apr 24.
Published in final edited form as: Muscle Nerve. 2018 Apr; 57(4): 679–683. Published online 2017 Sep 30. doi: 10.1002/mus.25970
PMCID:
PMC5915624
AbstractArticlePDF–341K
17.
PLEIAD/SIMC1/C5orf25, a Novel Autolysis Regulator for a Skeletal-Muscle-Specific Calpain, CAPN3, Scaffolds a CAPN3 Substrate, CTBP1
Yasuko Ono, Shun-ichiro Iemura, Stefanie M. Novak, Naoko Doi, Fujiko Kitamura, Tohru Natsume, Carol C. Gregorio, Hiroyuki Sorimachi
J Mol Biol. Author manuscript; available in PMC 2017 Aug 30.
Published in final edited form as: J Mol Biol. 2013 Aug 23; 425(16): 2955–2972. Published online 2013 May 21. doi: 10.1016/j.jmb.2013.05.009
PMCID:
PMC5576862
AbstractArticlePDF–862K
18.
Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables
Tao Guo, Rui-Xing Yin, Ling Pan, Shuo Yang, Liu Miao, Feng Huang
Sci Rep. 2017; 7: 45119. Published online 2017 Mar 23. doi: 10.1038/srep45119
PMCID:
PMC5378954
AbstractArticlePDF–1.1M
19.
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation
Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno
PLoS One. 2017; 12(1): e0170280. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0170280
PMCID:
PMC5245889
AbstractArticlePDF–1.2M
20.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
AbstractArticlePDF–4.7M

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