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Items: 1 to 20 of 27

1.
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
2.
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
3.
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
4.
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
5.
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
6.
Diverse Splicing Patterns of Exonized Alu Elements in Human Tissues
Lan Lin, Shihao Shen, Anne Tye, James J. Cai, Peng Jiang, Beverly L. Davidson, Yi Xing
PLoS Genet. 2008 Oct; 4(10): e1000225. Published online 2008 Oct 17. doi: 10.1371/journal.pgen.1000225
PMCID:
PMC2562518
AbstractArticlePDF–390K
7.
A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
Valérie Allamand, Pascale Richard, Alain Lescure, Céline Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, Nadine Pellegrini, J Andoni Urtizberea, Pascale Guicheney
EMBO Rep. 2006 Apr; 7(4): 450–454. Published online 2006 Feb 24. doi: 10.1038/sj.embor.7400648
PMCID:
PMC1456920
AbstractArticlePDF–130K
8.
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
B Moghadaszadeh, I Desguerre, H Topaloglu, F Muntoni, S Pavek, C Sewry, M Mayer, M Fardeau, F M Tomé, P Guicheney
Am J Hum Genet. 1998 Jun; 62(6): 1439–1445. doi: 10.1086/301882
PMCID:
PMC1377161
SummaryPDF–509K
9.
Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies
Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jean-Jacques Martin, Francesco Muntoni, Thomas Voit, Brigitte Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney
Am J Hum Genet. 2002 Oct; 71(4): 739–749. Published online 2002 Aug 21. doi: 10.1086/342719
PMCID:
PMC378532
AbstractArticlePDF–446K
10.
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
11.
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
12.
Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons
Michael T Howard, Gaurav Aggarwal, Christine B Anderson, Shikha Khatri, Kevin M Flanigan, John F Atkins
EMBO J. 2005 Apr 20; 24(8): 1596–1607. Published online 2005 Mar 24. doi: 10.1038/sj.emboj.7600642
PMCID:
PMC1142574
AbstractArticlePDF–930K
13.
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle
Michael J. Jurynec, Ruohong Xia, John J. Mackrill, Derrick Gunther, Thomas Crawford, Kevin M. Flanigan, Jonathan J. Abramson, Michael T. Howard, David Jonah Grunwald
Proc Natl Acad Sci U S A. 2008 Aug 26; 105(34): 12485–12490. Published online 2008 Aug 19. doi: 10.1073/pnas.0806015105
PMCID:
PMC2527938
AbstractArticlePDF–1.1M
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
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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