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Select item 108392931.

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti

Epilepsia Open. 2024 Feb; 9(1): 106–121. Published online 2023 Nov 27. doi: 10.1002/epi4.12837

PMCID:: PMC10839293

Abstract Article PDF–4.6M

Select item 63019672.

Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase

Bart Van Laer, Ulrike Kapp, Montserrat Soler-Lopez, Kaja Moczulska, Svante Pääbo, Gordon Leonard, Christoph Mueller-Dieckmann

Sci Rep. 2018; 8: 18008. Published online 2018 Dec 20. doi: 10.1038/s41598-018-36195-5

PMCID:: PMC6301967

Abstract Article PDF–3.0M

Select item 34243773.

Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation

Stephen P. Ray, Michelle K. Deaton, Glenn C. Capodagli, Lauren A. F. Calkins, Lucas Sawle, Kingshuk Ghosh, David Patterson, Scott D. Pegan

Biochemistry. Author manuscript; available in PMC 2013 Aug 21.

Published in final edited form as: Biochemistry. 2012 Aug 21; 51(33): 6701–6713. Published online 2012 Aug 7. doi: 10.1021/bi300796y

PMCID:: PMC3424377

Abstract Article PDF–3.8M

Select item 68584554.

Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer

Giada Zurlo, Xijuan Liu, Mamoru Takada, Cheng Fan, Jeremy M. Simon, Travis S. Ptacek, Javier Rodriguez, Alex von Kriegsheim, Juan Liu, Jason W. Locasale, Adam Robinson, Jing Zhang, Jessica M. Holler, Baek Kim, Marie Zikánová, Jörgen Bierau, Ling Xie, Xian Chen, Mingjie Li, Charles M. Perou, Qing Zhang

Nat Commun. 2019; 10: 5177. Published online 2019 Nov 15. doi: 10.1038/s41467-019-13168-4

PMCID:: PMC6858455

Abstract Article PDF–2.7M

Select item 27453245.

Biochemical and Biophysical Analysis of Five Disease-Associated Human Adenylosuccinate Lyase Mutants

Lushanti De Zoysa Ariyananda, Peychii Lee, Christina Antonopoulos, Roberta F. Colman

Biochemistry. Author manuscript; available in PMC 2010 Jun 16.

Published in final edited form as: Biochemistry. 2009 Jun 16; 48(23): 5291–5302. doi: 10.1021/bi802321m

PMCID:: PMC2745324

Abstract Article PDF–2.6M

Select item 3849706.

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

S. Marie, V. Race, M.-C. Nassogne, M.-F. Vincent, G. Van den Berghe

Am J Hum Genet. 2002 Jul; 71(1): 14–21. Published online 2002 May 9. doi: 10.1086/341036

PMCID:: PMC384970

Abstract Article PDF–292K

Select item 27296697.

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

Karol Estrada, Michael Krawczak, Stefan Schreiber, Kate van Duijn, Lisette Stolk, Joyce B.J. van Meurs, Fan Liu, Brenda W.J.H. Penninx, Jan H. Smit, Nicole Vogelzangs, Jouke Jan Hottenga, Gonneke Willemsen, Eco J.C. de Geus, Mattias Lorentzon, Huberta von Eller-Eberstein, Paul Lips, Natascha Schoor, Victor Pop, Jules de Keijzer, Albert Hofman, Yurii S. Aulchenko, Ben A. Oostra, Claes Ohlsson, Dorret I. Boomsma, Andre G. Uitterlinden, Cornelia M. van Duijn, Fernando Rivadeneira, Manfred Kayser

Hum Mol Genet. 2009 Sep 15; 18(18): 3516–3524. Published online 2009 Jul 1. doi: 10.1093/hmg/ddp296

PMCID:: PMC2729669

Abstract Article PDF–242K

Select item 60307308.

AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation

Julia Hülsmann, Bojana Kravic, Matthias Weith, Matthias Gstaiger, Ruedi Aebersold, Ben C. Collins, Hemmo Meyer

Mol Cell Proteomics. 2018 Jul; 17(7): 1295–1307. Published online 2018 Mar 29. doi: 10.1074/mcp.RA117.000471

PMCID:: PMC6030730

Abstract Article PDF–3.8M

Select item 34188449.

Methods for Quantification of in vivo Changes in Protein Ubiquitination following Proteasome and Deubiquitinase Inhibition

Namrata D. Udeshi, D. R. Mani, Thomas Eisenhaure, Philipp Mertins, Jacob D. Jaffe, Karl R. Clauser, Nir Hacohen, Steven A. Carr

Mol Cell Proteomics. 2012 May; 11(5): 148–159. Published online 2012 Apr 14. doi: 10.1074/mcp.M111.016857

PMCID:: PMC3418844

Abstract Article PDF–1.5M

Select item 322671910.

Global Identification of Modular Cullin-Ring Ligase Substrates

Michael J. Emanuele, Andrew E.H. Elia, Qikai Xu, Claudio R Thoma, Lior Izhar, Yumei Leng, Ailan Guo, Yi-Ning Chen, John Rush, Paul Wei-Che Hsu, Hsueh-Chi Sherry Yen, Stephen J Elledge

Cell. Author manuscript; available in PMC 2012 Apr 14.

Published in final edited form as: Cell. 2011 Oct 14; 147(2): 459–474. Published online 2011 Sep 29. doi: 10.1016/j.cell.2011.09.019

Correction in:: volume 148 on page 620

PMCID:: PMC3226719

Abstract Article PDF–5.9M

Select item 470913611.

FIH Regulates Cellular Metabolism through Hydroxylation of the Deubiquitinase OTUB1

Carsten C. Scholz, Javier Rodriguez, Christina Pickel, Stephen Burr, Jacqueline-alba Fabrizio, Karen A. Nolan, Patrick Spielmann, Miguel A. S. Cavadas, Bianca Crifo, Doug N. Halligan, James A. Nathan, Daniel J. Peet, Roland H. Wenger, Alex Von Kriegsheim, Eoin P. Cummins, Cormac T. Taylor

PLoS Biol. 2016 Jan; 14(1): e1002347. Published online 2016 Jan 11. doi: 10.1371/journal.pbio.1002347

PMCID:: PMC4709136

Abstract Article PDF–2.3M

Select item 320042712.

Systematic and quantitative assessment of the ubiquitin modified proteome

Woong Kim, Eric J. Bennett, Edward L. Huttlin, Ailan Guo, Jing Li, Anthony Possemato, Mathew E. Sowa, Ramin Rad, John Rush, Michael J. Comb, J. Wade Harper, Steven P. Gygi

Mol Cell. Author manuscript; available in PMC 2012 Oct 21.

Published in final edited form as: Mol Cell. 2011 Oct 21; 44(2): 325–340. Published online 2011 Sep 8. doi: 10.1016/j.molcel.2011.08.025

PMCID:: PMC3200427

Abstract Article PDF–3.1M

Select item 320587613.

A Proteome-wide, Quantitative Survey of In Vivo Ubiquitylation Sites Reveals Widespread Regulatory Roles

Sebastian A. Wagner, Petra Beli, Brian T. Weinert, Michael L. Nielsen, Jürgen Cox, Matthias Mann, Chunaram Choudhary

Mol Cell Proteomics. 2011 Oct; 10(10): M111.013284. Published online 2011 Sep 1. doi: 10.1074/mcp.M111.013284

PMCID:: PMC3205876

Abstract Article PDF–4.8M

Select item 922651014.

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia

Linjiang Lao, Isabelle Bourdeau, Lucia Gagliardi, Xiao He, Wei Shi, Bingbing Hao, Minjia Tan, Yan Hu, Junzheng Peng, Benoit Coulombe, David J Torpy, Hamish S Scott, Andre Lacroix, Hongyu Luo, Jiangping Wu

Nucleic Acids Res. 2022 Jun 24; 50(11): 6343–6367. Published online 2022 Jun 10. doi: 10.1093/nar/gkac483

PMCID:: PMC9226510

Abstract Article PDF–3.7M

Select item 304715215.

Mass Spectrometric Analysis of Lysine Ubiquitylation Reveals Promiscuity at Site Level

Jannie M. R. Danielsen, Kathrine B. Sylvestersen, Simon Bekker-Jensen, Damian Szklarczyk, Jon W. Poulsen, Heiko Horn, Lars J. Jensen, Niels Mailand, Michael L. Nielsen

Mol Cell Proteomics. 2011 Mar; 10(3): M110.003590. Published online 2010 Dec 7. doi: 10.1074/mcp.M110.003590

PMCID:: PMC3047152

Abstract Article PDF–2.9M

Select item 710529416.

STUB1 is targeted by the SUMO-interacting motif of EBNA1 to maintain Epstein-Barr Virus latency

Yuyan Wang, Shujuan Du, Caixia Zhu, Chong Wang, Nuoya Yu, Ziqi Lin, Jin Gan, Yi Guo, Xinxin Huang, Yuping He, Erle Robertson, Di Qu, Fang Wei, Qiliang Cai

PLoS Pathog. 2020 Mar; 16(3): e1008447. Published online 2020 Mar 16. doi: 10.1371/journal.ppat.1008447

PMCID:: PMC7105294

Abstract Article PDF–4.4M

Select item 675999717.

Interactome of the Autoimmune Risk Protein ANKRD55

Nerea Ugidos, Jorge Mena, Sara Baquero, Iraide Alloza, Mikel Azkargorta, Felix Elortza, Koen Vandenbroeck

Front Immunol. 2019; 10: 2067. Published online 2019 Sep 18. doi: 10.3389/fimmu.2019.02067

PMCID:: PMC6759997

Abstract Article PDF–2.0M

Select item 794845218.

A conserved acetylation switch enables pharmacological control of tubby-like protein stability

Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard

J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839

PMCID:: PMC7948452

Abstract Article PDF–3.6M

Select item 600581619.

Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B

Morag R. Hunter, Geoffrey G. Hesketh, Tomasz H. Benedyk, Anne-Claude Gingras, Stephen C. Graham

J Mol Biol. 2018 Jul 6; 430(14): 2153–2163. doi: 10.1016/j.jmb.2018.05.019

PMCID:: PMC6005816

Abstract Article PDF–1.6M

Select item 54560420.

A genome annotation-driven approach to cloning the human ORFeome

John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham

Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84

PMCID:: PMC545604

Abstract Article PDF–762K

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PMC Links for Gene (Select 158) (63)
PMC
Mus musculus ClpB caseinolytic peptidase B (Clpb), transcript variant 2, mRNA; n...
Mus musculus ClpB caseinolytic peptidase B (Clpb), transcript variant 2, mRNA; nuclear gene for mitochondrial product
gi|1395168489|ref|NM_001363991.1|

Nucleotide
H(+)/Cl(-) exchange transporter 5 isoform X2 [Homo sapiens]
H(+)/Cl(-) exchange transporter 5 isoform X2 [Homo sapiens]
gi|2462628158|ref|XP_054182409.1|

Protein
Mus musculus late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 (Lamtor...
Mus musculus late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 (Lamtor1), mRNA
gi|242332592|ref|NM_025605.3|

Nucleotide
Dent disease type 1
Dent disease type 1

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