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Select item 105303261.

Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease

Melissa M. Boerrigter, Renée Duijzer, René H. M. te Morsche, Joost P. H. Drenth

Genes (Basel) 2023 Sep; 14(9): 1755. Published online 2023 Sep 2. doi: 10.3390/genes14091755

PMCID:: PMC10530326

Abstract Article PDF–11M

Select item 68308052.

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

Whitney Besse, Alex R. Chang, Jonathan Z. Luo, William J. Triffo, Bryn S. Moore, Ashima Gulati, Dustin N. Hartzel, Shrikant Mane, Regeneron Genetics Center, Vicente E. Torres, Stefan Somlo, Tooraj Mirshahi

J Am Soc Nephrol. 2019 Nov; 30(11): 2091–2102. Published online 2019 Aug 8. doi: 10.1681/ASN.2019030298

PMCID:: PMC6830805

Abstract Article

Select item 47172123.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham, Erik A Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner, Peter Lindgren, Anna Lindstrand, Anna Wedell, Margareta Albåge, Katarzyna Zielinska, Ann Nordgren, Nikos Papadogiannakis, Gen Nishimura, Giedre Grigelioniene

Eur J Hum Genet. 2016 Feb; 24(2): 198–207. Published online 2015 May 13. doi: 10.1038/ejhg.2015.91

PMCID:: PMC4717212

Abstract Article PDF–2.6M

Select item 15693664.

Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

Bora E Baysal, Joan E Willett-Brozick, Silviu-Alin Bacanu, Sevilla Detera-Wadleigh, Vishwajit L Nimgaonkar

Behav Brain Funct. 2006; 2: 25. Published online 2006 Jul 21. doi: 10.1186/1744-9081-2-25

PMCID:: PMC1569366

Abstract Article PDF–257K

Select item 50709055.

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Ashwini Maratha, Henning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd, Eileen Treacy

Eur J Hum Genet. 2016 Jul; 24(7): 976–984. Published online 2016 Jan 6. doi: 10.1038/ejhg.2015.254

PMCID:: PMC5070905

Abstract Article PDF–2.0M

Select item 11819986.

Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL

Christian G. Frank, Claudia E. Grubenmann, Wafaa Eyaid, Eric G. Berger, Markus Aebi, Thierry Hennet

Am J Hum Genet. 2004 Jul; 75(1): 146–150. Published online 2004 May 17. doi: 10.1086/422367

PMCID:: PMC1181998

Abstract Article PDF–391K

Select item 56844427.

The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion

M Swayampakula, P C McDonald, M Vallejo, E Coyaud, S C Chafe, A Westerback, G Venkateswaran, J Shankar, G Gao, E M N Laurent, Y Lou, K L Bennewith, C T Supuran, I R Nabi, B Raught, S Dedhar

Oncogene. 2017 Nov 9; 36(45): 6244–6261. Published online 2017 Jul 10. doi: 10.1038/onc.2017.219

PMCID:: PMC5684442

Abstract Article PDF–4.4M

Select item 65512668.

FAM105A/OTULINL is a pseudodebuiquitinase of the OTU-class that localizes to the ER membrane

Derek F. Ceccarelli, Sofiia Ivantsiv, Amber Anne Mullin, Etienne Coyaud, Noah Manczyk, Pierre Maisonneuve, Igor Kurinov, Liang Zhao, Chris Go, Anne-Claude Gingras, Brian Raught, Sabine Cordes, Frank Sicheri

Structure. Author manuscript; available in PMC 2020 Jun 4.

Published in final edited form as: Structure. 2019 Jun 4; 27(6): 1000–1012.e6. Published online 2019 May 2. doi: 10.1016/j.str.2019.03.022

PMCID:: PMC6551266

Abstract Article PDF–3.4M

Select item 106415249.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley

J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295

PMCID:: PMC10641524

Abstract Article PDF–3.8M

Select item 134750110.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Abstract Article PDF–301K

Select item 52893011.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Abstract Article PDF–459K

Select item 895155612.

A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins

Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux

Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611

PMCID:: PMC8951556

Abstract Article PDF–4.4M

Select item 852757813.

An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity

Yuehui Zhang, Limin Shang, Jing Zhang, Yuchen Liu, Chaozhi Jin, Yanan Zhao, Xiaobo Lei, Wenjing Wang, Xia Xiao, Xiuyuan Zhang, Yujiao Liu, Linlin Liu, Meng-Wei Zhuang, Qingkun Mi, Chunyan Tian, Jianwei Wang, Fuchu He, Pei-Hui Wang, Jian Wang

Cell Chem Biol. 2022 Jan 20; 29(1): 5–18.e6. Published online 2021 Oct 20. doi: 10.1016/j.chembiol.2021.10.008

PMCID:: PMC8527578

Abstract Article PDF–4.5M

Select item 31107214.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701

PMCID:: PMC311072

Abstract Article PDF–542K

Select item 488219015.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 31094816.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

Select item 923162317.

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

Abstract Article PDF–6.0M

Select item 570387818.

The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery

Ramesh Kumar, Román González-Prieto, Zhenyu Xiao, Matty Verlaan-de Vries, Alfred C. O. Vertegaal

Nat Commun. 2017; 8: 1809. Published online 2017 Nov 27. doi: 10.1038/s41467-017-01900-x

PMCID:: PMC5703878

Abstract Article PDF–3.7M

Select item 756688119.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 508937420.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

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