PMC Links for GEO Profiles (Select 60651987) - PMC

Select item 101516151.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 100949852.

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

Melissa Owusu-Ansah, Nikita Guptan, Dylon Alindogan, Michio Morizono, Ljubica Caldovic

Int J Mol Sci. 2023 Apr; 24(7): 6754. Published online 2023 Apr 4. doi: 10.3390/ijms24076754

PMCID:: PMC10094985

Abstract Article PDF–4.5M

Select item 86047553.

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Johannes Häberle, Marvin B. Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, Estela Rubio-Gozalbo, Mendel Tuchman, Nicola Longo, Mark Yandell, Ashley Andrews, Nicholas AhMew, Ljubica Caldovic

Hum Mutat. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Hum Mutat. 2021 Dec; 42(12): 1624–1636. Published online 2021 Sep 24. doi: 10.1002/humu.24281

PMCID:: PMC8604755

Abstract Article PDF–842K

Select item 81650304.

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

Abstract Article PDF–2.2M

Select item 61941215.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Monique Williams, Alberto Burlina, Laura Rubert, Giulia Polo, George J. G. Ruijter, Myrthe van den Born, Véronique Rüfenacht, Nantaporn Haskins, Laura J. C. M. van Zutven, Mendel Tuchman, Jasper J. Saris, Johannes Häberle, Ljubica Caldovic

Sci Rep. 2018; 8: 15436. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33457-0

PMCID:: PMC6194121

Abstract Article PDF–1.2M

Select item 37220966.

Crystal Structure of the N-Acetyltransferase Domain of Human N-Acetyl-L-Glutamate Synthase in Complex with N-Acetyl-L-Glutamate Provides Insights into Its Catalytic and Regulatory Mechanisms

Gengxiang Zhao, Zhongmin Jin, Norma M. Allewell, Mendel Tuchman, Dashuang Shi

PLoS One. 2013; 8(7): e70369. Published online 2013 Jul 24. doi: 10.1371/journal.pone.0070369

PMCID:: PMC3722096

Abstract Article PDF–4.5M

Select item 32879967.

Transcriptional Regulation of N-Acetylglutamate Synthase

Sandra Kirsch Heibel, Giselle Yvette Lopez, Maria Panglao, Sonal Sodha, Leonardo Mariño-Ramírez, Mendel Tuchman, Ljubica Caldovic

PLoS One. 2012; 7(2): e29527. Published online 2012 Feb 27. doi: 10.1371/journal.pone.0029527

PMCID:: PMC3287996

Abstract Article PDF–1.8M

Select item 31780598.

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

Abstract Article PDF–1.0M

Select item 30318619.

Mammalian N-acetylglutamate synthase

Hiroki Morizono, Ljubica Caldovic, Dashuang Shi, Mendel Tuchman

Mol Genet Metab. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Mol Genet Metab. 2004 Apr; 81(Suppl 1): S4–11. doi: 10.1016/j.ymgme.2003.10.017

PMCID:: PMC3031861

Abstract Article PDF–989K

Select item 294516810.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 294347611.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 287681812.

N-acetylglutamate synthase: structure, function and defects

Ljubica Caldovic, Nicholas Ah Mew, Dashuang Shi, Hiroki Morizono, Marc Yudkoff, Mendel Tuchman

Mol Genet Metab. Author manuscript; available in PMC 2011 Feb 26.

Published in final edited form as: Mol Genet Metab. 2010; 100(Suppl 1): S13–S19. Published online 2010 Feb 26. doi: 10.1016/j.ymgme.2010.02.018

PMCID:: PMC2876818

Abstract Article PDF–1.5M

Select item 277583213.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014