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Items: 1 to 20 of 28

1.
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series
Karlijn Bouman, Frederik M.A. van den Heuvel, Reinder Evertz, Ewout Boesaard, Jan T. Groothuis, Baziel G.M. van Engelen, Robin Nijveldt, Corrie E. Erasmus, Floris E.A. Udink ten Cate, Nicol C. Voermans
J Neuromuscul Dis. 2024; 11(5): 919–934. Prepublished online 2024 Aug 16. Published online 2024 Sep 3. doi: 10.3233/JND-230190
PMCID:
PMC11380286
AbstractArticlePDF–876K
2.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
3.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
4.
Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network
Rebecca Elizabeth Kattan, Han Han, Gayoung Seo, Bing Yang, Yongqi Lin, Max Dotson, Stephanie Pham, Yahya Menely, Wenqi Wang
Mol Cell Proteomics. 2022 Feb; 21(2): 100195. Published online 2022 Jan 8. doi: 10.1016/j.mcpro.2022.100195
PMCID:
PMC8864472
AbstractArticlePDF–3.6M
5.
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
6.
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy
Anne Filipe, Alexander Chernorudskiy, Sandrine Arbogast, Ersilia Varone, Rocío-Nur Villar-Quiles, Diego Pozzer, Maryline Moulin, Stefano Fumagalli, Eva Cabet, Swati Dudhal, Maria-Grazia De Simoni, Raphaël Denis, Nathalie Vadrot, Corinne Dill, Matteo Giovarelli, Luke Szweda, Clara De Palma, Paolo Pinton, Carlotta Giorgi, Carlo Viscomi, Emilio Clementi, Sonia Missiroli, Simona Boncompagni, Ester Zito, Ana Ferreiro
Cell Death Differ. 2021 Jan; 28(1): 123–138. Published online 2020 Jul 13. doi: 10.1038/s41418-020-0587-z
PMCID:
PMC7853070
AbstractArticlePDF–5.0M
7.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Rocio N. Villar-Quiles, Maja von der Hagen, Corinne Métay, Victoria Gonzalez, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, Maria Luz Cuadrado, Marianne de Visser, Isabelle Desguerre, Bruno Eymard, Nathalie Goemans, Angela Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, Michèle Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter-Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloglu, J. Andoni Urtizberea, Anneke van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, Brigitte Estournet, Pascale Richard, Susana Quijano-Roy, Ulrike Schara, Ana Ferreiro
Neurology. 2020 Sep 15; 95(11): e1512–e1527. doi: 10.1212/WNL.0000000000010327
PMCID:
PMC7713742
AbstractArticlePDF–1.2M
8.
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Ann Clin Transl Neurol. 2020 Nov; 7(11): 2288–2296. Published online 2020 Oct 10. doi: 10.1002/acn3.51218
PMCID:
PMC7664282
AbstractArticlePDF–1.5M
9.
Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity
Alexander Chernorudskiy, Ersilia Varone, Sara Francesca Colombo, Stefano Fumagalli, Alfredo Cagnotto, Angela Cattaneo, Mickael Briens, Mireille Baltzinger, Lauriane Kuhn, Angela Bachi, Andrea Berardi, Mario Salmona, Giovanna Musco, Nica Borgese, Alain Lescure, Ester Zito
Proc Natl Acad Sci U S A. 2020 Sep 1; 117(35): 21288–21298. Published online 2020 Aug 17. doi: 10.1073/pnas.2003847117
PMCID:
PMC7474598
AbstractArticlePDF–1.8M
10.
High glucose and TGF-β1 reduce expression of endoplasmic reticulum-resident selenoprotein S and selenoprotein N in human mesangial cells
Fumeng Huang, Yuanxu Guo, Li Wang, Lanmei Jing, Zhao Chen, Shemin Lu, Rongguo Fu, Lifang Tian
Ren Fail. 2019; 41(1): 762–769. Published online 2019 Sep 5. doi: 10.1080/0886022X.2019.1641413
PMCID:
PMC6735353
AbstractArticlePDF–920K
11.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
12.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
13.
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1
Yi Dai, Shengran Liang, Yan Huang, Lin Chen, Santasree Banerjee
Oncotarget. 2016 Dec 20; 7(51): 83843–83849. Published online 2016 Nov 14. doi: 10.18632/oncotarget.13337
PMCID:
PMC5356628
AbstractArticlePDF–1.0M
14.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
15.
SILAC-Based Proteomics of Human Primary Endothelial Cell Morphogenesis Unveils Tumor Angiogenic Markers
Sara Zanivan, Federica Maione, Marco Y. Hein, Juan Ramon Hernández-Fernaud, Pawel Ostasiewicz, Enrico Giraudo, Matthias Mann
Mol Cell Proteomics. 2013 Dec; 12(12): 3599–3611. Published online 2013 Aug 26. doi: 10.1074/mcp.M113.031344
PMCID:
PMC3861710
AbstractArticlePDF–2.3M
16.
Interpreting cancer genomes using systematic host perturbations by tumour virus proteins
Orit Rozenblatt-Rosen, Rahul C. Deo, Megha Padi, Guillaume Adelmant, Michael A. Calderwood, Thomas Rolland, Miranda Grace, Amélie Dricot, Manor Askenazi, Maria Tavares, Sam Pevzner, Fieda Abderazzaq, Danielle Byrdsong, Anne-Ruxandra Carvunis, Alyce A. Chen, Jingwei Cheng, Mick Correll, Melissa Duarte, Changyu Fan, Mariet C. Feltkamp, Scott B. Ficarro, Rachel Franchi, Brijesh K. Garg, Natali Gulbahce, Tong Hao, Amy M. Holthaus, Robert James, Anna Korkhin, Larisa Litovchick, Jessica C. Mar, Theodore R. Pak, Sabrina Rabello, Renee Rubio, Yun Shen, Saurav Singh, Jennifer M. Spangle, Murat Tasan, Shelly Wanamaker, James T. Webber, Jennifer Roecklein-Canfield, Eric Johannsen, Albert-László Barabási, Rameen Beroukhim, Elliott Kieff, Michael E. Cusick, David E. Hill, Karl Münger, Jarrod A. Marto, John Quackenbush, Frederick P. Roth, James A. DeCaprio, Marc Vidal
Nature. Author manuscript; available in PMC 2013 Jan 26.
Published in final edited form as: Nature. 2012 Jul 26; 487(7408): 491–495. doi: 10.1038/nature11288
PMCID:
PMC3408847
AbstractArticlePDF–937K
17.
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
18.
Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph
Delphine Casabonne, Oscar Reina, Yolanda Benavente, Nikolaus Becker, Marc Maynadié, Lenka Foretová, Pierluigi Cocco, Anna González-Neira, Alexandra Nieters, Paolo Boffetta, Jaap M. Middeldorp, Silvia de Sanjose
Haematologica. 2011 Feb; 96(2): 323–327. Published online 2010 Nov 3. doi: 10.3324/haematol.2010.031161
PMCID:
PMC3031703
AbstractArticlePDF–401K
19.
A mutation in the SEPN1 SRE reduces selenocysteine incorporation and leads to SEPN1-related myopathy
Baijayanta Maiti, Sandrine Arbogast, Valérie Allamand, Mark Moyle, Christine Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin Flanigan, Michael Howard
Hum Mutat. Author manuscript; available in PMC 2010 Jul 23.
Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 411–416. doi: 10.1002/humu.20879
PMCID:
PMC2909032
AbstractArticlePDF–377K
20.
Ubiquitin-mediated proteolysis of HuR by heat shock
Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe
EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67
PMCID:
PMC2683047
AbstractArticlePDF–1.4M

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