PMC Links for Gene (Select 57505) - PMC

Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda Jenkins, Liliya Euro, Svetlana Konovalova, Taru Hilander, Angela Pyle, Langping He, Sultan Habeebu, Carol Saunders, Anna Kelsey, Andrew A M Morris, Robert McFarland, Anu Suomalainen, Gráinne S Gorman, En-Duo Wang, Isabelle Thiffault, Henna Tyynismaa, Robert W Taylor

Hum Mol Genet. 2019 Jan 15; 28(2): 258–268. Published online 2018 Oct 4. doi: 10.1093/hmg/ddy294

PMCID:: PMC6321959

Abstract Article PDF–24M

Select item 61045164.

Retinopathy and optic atrophy: expanding the phenotypic spectrum of pathogenic variants in AARS2 gene

Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar

Ophthalmic Genet. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Ophthalmic Genet. 2018 Jan-Feb; 39(1): 99–102. Published online 2017 Aug 18. doi: 10.1080/13816810.2017.1350723

PMCID:: PMC6104516

Abstract Article PDF–258K

Select item 41185005.

Novel (ovario) leukodystrophy related to AARS2 mutations

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Kim Chapman, Alison Colley, Helena Rocha, Katrin Őunap, Raphael Schiffmann, Ettore Salsano, Mario Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

Neurology. 2014 Jun 10; 82(23): 2063–2071. doi: 10.1212/WNL.0000000000000497

PMCID:: PMC4118500

Abstract Article PDF–990K

Select item 58914916.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Rick Kamps, Radek Szklarczyk, Tom E. Theunissen, Debby M. E. I. Hellebrekers, Suzanne C. E. H. Sallevelt, Iris B. Boesten, Bart de Koning, Bianca J. van den Bosch, Gajja S. Salomons, Marisa Simas-Mendes, Rob Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Jo M. Vanoevelen, Hubert J. M. Smeets

Eur J Hum Genet. 2018 Apr; 26(4): 537–551. Published online 2018 Feb 13. doi: 10.1038/s41431-017-0058-2

PMCID:: PMC5891491

Abstract Article PDF–1.1M

Select item 31467187.

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Götz, Henna Tyynismaa, Liliya Euro, Pekka Ellonen, Tuulia Hyötyläinen, Tiina Ojala, Riikka H. Hämäläinen, Johanna Tommiska, Taneli Raivio, Matej Oresic, Riitta Karikoski, Outi Tammela, Kalle O.J. Simola, Anders Paetau, Tiina Tyni, Anu Suomalainen

Am J Hum Genet. 2011 May 13; 88(5): 635–642. doi: 10.1016/j.ajhg.2011.04.006

PMCID:: PMC3146718

Abstract Article PDF–1.0M

Select item 35238058.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha

Sci Transl Med. Author manuscript; available in PMC 2012 Dec 17.

Published in final edited form as: Sci Transl Med. 2012 Jan 25; 4(118): 118ra10. doi: 10.1126/scitranslmed.3003310

PMCID:: PMC3523805

Abstract Article PDF–1.7M

Select item 1875429.

Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs

Manabu Nakayama, Reiko Kikuno, Osamu Ohara

Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902

PMCID:: PMC187542

Abstract Article PDF–374K

Select item 625176110.

Endogenous Cell Type-Specific DISC1 Interactomes Reveal Protein Networks Associated to Neurodevelopmental Disorders

Brent Wilkinson, Oleg Evgrafov, DongQing Zheng, Nicolas Hartel, James A. Knowles, Nicholas A. Graham, Justin Ichida, Marcelo P. Coba

Biol Psychiatry. Author manuscript; available in PMC 2020 Feb 15.

Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 305–316. Published online 2018 May 23. doi: 10.1016/j.biopsych.2018.05.009

PMCID:: PMC6251761

Abstract Article PDF–1.6M

Select item 662002811.

Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality

Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff

Cancer Cell. Author manuscript; available in PMC 2020 May 13.

Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014

PMCID:: PMC6620028

Abstract Article PDF–2.9M

Select item 1049982112.

Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets

Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson

Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8

PMCID:: PMC10499821

Abstract Article PDF–2.6M

Select item 913694313.

Interactomic analysis reveals a homeostatic role for the HIV restriction factor TRIM5α in mitophagy

Bhaskar Saha, Michelle Salemi, Geneva L. Williams, Seeun Oh, Michael L. Paffett, Brett Phinney, Michael A. Mandell

Cell Rep. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell Rep. 2022 May 10; 39(6): 110797. doi: 10.1016/j.celrep.2022.110797

PMCID:: PMC9136943

Abstract Article PDF–3.2M

Select item 1014884314.

mTORC2 interactome and localization determine aggressiveness of high-grade glioma cells through association with gelsolin

Naphat Chantaravisoot, Piriya Wongkongkathep, Nuttiya Kalpongnukul, Narawit Pacharakullanon, Pornchai Kaewsapsak, Chaiyaboot Ariyachet, Joseph A. Loo, Fuyuhiko Tamanoi, Trairak Pisitkun

Sci Rep. 2023; 13: 7037. Published online 2023 Apr 29. doi: 10.1038/s41598-023-33872-y

PMCID:: PMC10148843

Abstract Article PDF–11M

Select item 764586315.

N‐Terminomics for the Identification of In Vitro Substrates and Cleavage Site Specificity of the SARS‐CoV‐2 Main Protease

Tomas Koudelka, Juliane Boger, Alessandra Henkel, Robert Schönherr, Stefanie Krantz, Sabine Fuchs, Estefanía Rodríguez, Lars Redecke, Andreas Tholey

Proteomics. 2021 Jan; 21(2): 2000246. Published online 2020 Nov 17. doi: 10.1002/pmic.202000246

PMCID:: PMC7645863

Abstract Article PDF–497K

Select item 484178316.

The cell proliferation antigen Ki-67 organises heterochromatin

Michal Sobecki, Karim Mrouj, Alain Camasses, Nikolaos Parisis, Emilien Nicolas, David Llères, François Gerbe, Susana Prieto, Liliana Krasinska, Alexandre David, Manuel Eguren, Marie-Christine Birling, Serge Urbach, Sonia Hem, Jérôme Déjardin, Marcos Malumbres, Philippe Jay, Vjekoslav Dulic, Denis LJ Lafontaine, Robert Feil, Daniel Fisher

eLife. 2016; 5: e13722. Published online 2016 Mar 7. doi: 10.7554/eLife.13722

PMCID:: PMC4841783

Abstract Article PDF–5.1M

Select item 673107417.

Targeted and Interactome Proteomics Revealed the Role of PHD2 in Regulating BRD4 Proline Hydroxylation

Luke Erber, Ang Luo, Yue Chen

Mol Cell Proteomics. 2019 Sep; 18(9): 1772–1781. Published online 2019 Jun 25. doi: 10.1074/mcp.RA119.001535

PMCID:: PMC6731074

Abstract Article PDF–1.4M

Select item 642645518.

Mapping the genetic landscape of human cells

Max A. Horlbeck, Albert Xu, Min Wang, Neal K. Bennett, Chong Y. Park, Derek Bogdanoff, Britt Adamson, Eric D. Chow, Martin Kampmann, Tim R. Peterson, Ken Nakamura, Michael A. Fischbach, Jonathan S. Weissman, Luke A. Gilbert

Cell. Author manuscript; available in PMC 2019 Aug 9.

Published in final edited form as: Cell. 2018 Aug 9; 174(4): 953–967.e22. Published online 2018 Jul 19. doi: 10.1016/j.cell.2018.06.010

PMCID:: PMC6426455

Abstract Article PDF–3.6M

Select item 875541919.

Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation

Yuzheng Zhou, Rong Zheng, Sixu Liu, Cyrollah Disoma, Ashuai Du, Shiqin Li, Zongpeng Chen, Zijun Dong, Yongxing Zhang, Sijia Li, Pinjia Liu, Aroona Razzaq, Xuan Chen, Yujie Liao, Siyi Tao, Yuxin Liu, Lunan Xu, Qianjun Zhang, Jian Peng, Xu Deng, Shanni Li, Taijiao Jiang, Zanxian Xia

J Biol Chem. 2022 Feb; 298(2): 101584. Published online 2022 Jan 13. doi: 10.1016/j.jbc.2022.101584

PMCID:: PMC8755419

Abstract Article PDF–3.5M

Select item 1626720.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

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