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Items: 20

1.
Both Heterozygous and Homozygous Loss‐of‐Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder
Dora Steel, Aikaterini Vezyroglou, Katy Barwick, Martin Smith, Julie Vogt, Frances M. Gibbon, J. Helen Cross, Manju A. Kurian
Mov Disord. 2023 Jan; 38(1): 155–157. Published online 2022 Oct 23. doi: 10.1002/mds.29250
PMCID:
PMC10092631
ArticlePDF–269K
2.
Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence
Stefano Perni, Kurt Beam
J Gen Physiol. 2022 Sep 5; 154(9): e202113024. Published online 2022 Jan 28. doi: 10.1085/jgp.202113024
PMCID:
PMC9488633
AbstractArticlePDF–2.8M
3.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
4.
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
5.
Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane
Molly M. Hannigan, Alyson M. Hoffman, J. Will Thompson, Tianli Zheng, Christopher V. Nicchitta
Mol Cell Proteomics. 2020 Nov; 19(11): 1826–1849. Published online 2020 Aug 10. doi: 10.1074/mcp.RA120.002228
PMCID:
PMC7664120
AbstractArticlePDF–4.8M
6.
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
7.
Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers
Xiaotong Hu, Yeye Kuang, Lili Li, Haimei Tang, Qinglan Shi, Xingsheng Shu, Yanjiao Zhang, Francis KL Chan, Qian Tao, Chao He
Theranostics. 2017; 7(7): 2150–2163. Published online 2017 May 30. doi: 10.7150/thno.18185
PMCID:
PMC5485426
AbstractArticlePDF–2.8M
8.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M
9.
Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion
L Li, Z-F Pan, X Huang, B-W Wu, T Li, M-X Kang, R-S Ge, X-Y Hu, Y-H Zhang, L-J Ge, D-Y Zhu, Y-L Wu, Y-J Lou
Cell Death Dis. 2016 Jun; 7(6): e2275. Published online 2016 Jun 23. doi: 10.1038/cddis.2016.179
PMCID:
PMC5143404
AbstractArticlePDF–5.6M
10.
JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE
A Krause, CL Mitchell, F Essop, S Tager, J Temlett, G Stevanin, CA Ross, DD Rudnicki, RL Margolis
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2015 Oct; 168(7): 573–585. Published online 2015 Jun 16. doi: 10.1002/ajmg.b.32332
PMCID:
PMC4565761
AbstractArticlePDF–1.1M
11.
The Repeat Expansion Diseases: the dark side of DNA repair?
Xiao-Nan Zhao, Karen Usdin
DNA Repair (Amst) Author manuscript; available in PMC 2016 Aug 1.
Published in final edited form as: DNA Repair (Amst). 2015 Aug; 32: 96–105. Published online 2015 Apr 30. doi: 10.1016/j.dnarep.2015.04.019
PMCID:
PMC4522390
AbstractArticlePDF–560K
12.
JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family
Susanne A. Schneider, Kate E. Marshall, Jianfeng Xiao, Mark S. LeDoux
Neurogenetics. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Neurogenetics. 2012 May; 13(2): 133–140. Published online 2012 Mar 25. doi: 10.1007/s10048-012-0318-9
PMCID:
PMC3370891
AbstractArticlePDF–1.7M
13.
Protein Phosphatase 1α Interacting Proteins in the Human Brain
Sara L.C. Esteves, Sara C. Domingues, Odete A.B. da Cruz e Silva, Margarida Fardilha, Edgar F. da Cruz e Silva
OMICS. 2012 Jan; 16(1-2): 3–17. doi: 10.1089/omi.2011.0041
PMCID:
PMC3275796
AbstractArticlePDF–401K
14.
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
15.
A Novel Antisense CAG Repeat Transcript at JPH3 Locus Mediating Expanded Polyglutamine Protein Toxicity in Huntington’s Disease-Like 2 (HDL2) Mice
Brian Wilburn, Dobrila D. Rudnicki, Jing Zhao, Tara Murphy Weitz, Yin Cheng, Xiaofeng Gu, Erin Greiner, Chang Sin Park, Nan Wang, Bryce L. Sopher, Albert R. La Spada, Alex Osmand, Russell L. Margolis, Yi E. Sun, X. William Yang
Neuron. Author manuscript; available in PMC 2012 May 12.
Published in final edited form as: Neuron. 2011 May 12; 70(3): 427–440. doi: 10.1016/j.neuron.2011.03.021
PMCID:
PMC3107122
AbstractArticlePDF–1.9M
16.
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
Maria do Carmo Costa, Andreia Teixeira-Castro, Marco Constante, Marina Magalhães, Paula Magalhães, Joana Cerqueira, José Vale, Vitorina Passão, Célia Barbosa, Conceição Robalo, Paula Coutinho, José Barros, Manuela M. Santos, Jorge Sequeiros, Patrícia Maciel
J Hum Genet. Author manuscript; available in PMC 2010 Jul 23.
Published in final edited form as: J Hum Genet. 2006; 51(8): 645–651. Published online 2006 Jul 21. doi: 10.1007/s10038-006-0001-9
PMCID:
PMC2909272
AbstractArticlePDF–338K
17.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
18.
Large-scale mapping of human protein–protein interactions by mass spectrometry
Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys
Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134
PMCID:
PMC1847948
AbstractArticlePDF–440K
19.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
20.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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