PMC Links for GEO Profiles (Select 71243227) - PMC

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 73108474.

Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation

Mohamed W. Abukhatwah, Samia H. Almalki, Mohammed S. Althobaiti, Abdulla O. Alharbi, Najla K. Almalki, Naglaa M. Kamal

Medicine (Baltimore) 2020 Jun 19; 99(25): e20371. Published online 2020 Jun 19. doi: 10.1097/MD.0000000000020371

PMCID:: PMC7310847

Abstract Article PDF–515K

Select item 71699835.

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

Abstract Article PDF–5.4M

Select item 68805476.

Loss of alanine-glyoxylate and serine-pyruvate aminotransferase expression accelerated the progression of hepatocellular carcinoma and predicted poor prognosis

Yufeng Sun, Wenchao Li, Shiqi Shen, Xuejing Yang, Bing Lu, Xiaojing Zhang, Peng Lu, Yi Shen, Juling Ji

J Transl Med. 2019; 17: 390. Published online 2019 Nov 26. doi: 10.1186/s12967-019-02138-5

PMCID:: PMC6880547

Abstract Article PDF–11M

Select item 59218327.

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center

Neveen A. Soliman, Marwa M. Nabhan, Safaa M. Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M. Bazaraa, Ahmed M. Badr, Omar A. Tolba, Magd A. Kotb, Khaled M. Eweeda, Alaa Fayez

Nephrol Ther. Author manuscript; available in PMC 2018 Apr 27.

Published in final edited form as: Nephrol Ther. 2017 May; 13(3): 176–182. Published online 2017 Feb 1. doi: 10.1016/j.nephro.2016.08.002

PMCID:: PMC5921832

Abstract Article PDF–469K

Select item 51100078.

Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay

Sonia Fargue, John Knight, Ross P. Holmes, Gill Rumsby, Christopher J. Danpure

Biochim Biophys Acta. Author manuscript; available in PMC 2016 Nov 15.

Published in final edited form as: Biochim Biophys Acta. 2016 Jun; 1862(6): 1055–1062. Published online 2016 Feb 6. doi: 10.1016/j.bbadis.2016.02.004

PMCID:: PMC5110007

Abstract Article PDF–1.0M

Select item 50288819.

Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones

Cui Wang, Jingru Lu, Yanhua Lang, Ting Liu, Xiaoling Wang, Xiangzhong Zhao, Leping Shao

Sci Rep. 2016; 6: 33652. Published online 2016 Sep 20. doi: 10.1038/srep33652

PMCID:: PMC5028881

Abstract Article PDF–1.5M

Select item 421002810.

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1

Non Miyata, Janos Steffen, Meghan E. Johnson, Sonia Fargue, Christopher J. Danpure, Carla M. Koehler

Proc Natl Acad Sci U S A. 2014 Oct 7; 111(40): 14406–14411. Published online 2014 Sep 18. doi: 10.1073/pnas.1408401111

PMCID:: PMC4210028

Abstract Article PDF–1.4M

Select item 420477511.

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

Riccardo Montioli, Alessandro Roncador, Elisa Oppici, Giorgia Mandrile, Daniela Francesca Giachino, Barbara Cellini, Carla Borri Voltattorni

Hum Mol Genet. 2014 Nov 15; 23(22): 5998–6007. Published online 2014 Jul 2. doi: 10.1093/hmg/ddu329

PMCID:: PMC4204775

Abstract Article PDF–667K

Select item 408078012.

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1

Guo-min Li, Hong Xu, Qian Shen, Yi-nv Gong, Xiao-yan Fang, Li Sun, Hai-mei Liu, Yu An

BMC Nephrol. 2014; 15: 92. Published online 2014 Jun 17. doi: 10.1186/1471-2369-15-92

PMCID:: PMC4080780

Abstract Article PDF–3.0M

Select item 406425413.

An atlas of genetic influences on human blood metabolites

So-Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes, Craig L. Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li Xi, Elin Grundberg, The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Melanie Waldenberger, J. Brent Richards, Robert P. Mohney, Michael V. Milburn, Sally L. John, Jeff Trimmer, Fabian J. Theis, John P. Overington, Karsten Suhre, M. Julia Brosnan, Christian Gieger, Gabi Kastenmüller, Tim D Spector, Nicole Soranzo

Nat Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Nat Genet. 2014 Jun; 46(6): 543–550. Published online 2014 May 11. doi: 10.1038/ng.2982

PMCID:: PMC4064254

Abstract Article PDF–2.4M

Select item 398178814.

Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria

Melissa D. Lage, Adrianne M. C. Pittman, Alessandro Roncador, Barbara Cellini, Chandra L. Tucker

PLoS One. 2014; 9(4): e94338. Published online 2014 Apr 9. doi: 10.1371/journal.pone.0094338

PMCID:: PMC3981788

Abstract Article PDF–3.1M

Select item 381072615.

Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications

Elisa Oppici, Krisztian Fodor, Alessandro Paiardini, Chris Williams, Carla Borri Voltattorni, Matthias Wilmanns, Barbara Cellini

Proteins. 2013 Aug; 81(8): 1457–1465. Published online 2013 Jun 1. doi: 10.1002/prot.24300

PMCID:: PMC3810726

Abstract Article PDF–1.0M

Select item 379644416.

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

Noel Mesa-Torres, Israel Fabelo-Rosa, Debora Riverol, Cristina Yunta, Armando Albert, Eduardo Salido, Angel L. Pey

PLoS One. 2013; 8(8): e71963. Published online 2013 Aug 27. doi: 10.1371/journal.pone.0071963

PMCID:: PMC3796444

Abstract Article PDF–4.2M

Select item 373039417.

Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

Angel L. Pey, Armando Albert, Eduardo Salido

Biomed Res Int. 2013; 2013: 687658. Published online 2013 Jul 16. doi: 10.1155/2013/687658

PMCID:: PMC3730394

Abstract Article PDF–1.6M

Select item 355491618.

Four of the Most Common Mutations in Primary Hyperoxaluria Type 1 Unmask the Cryptic Mitochondrial Targeting Sequence of Alanine:glyoxylate Aminotransferase Encoded by the Polymorphic Minor Allele

Sonia Fargue, Jackie Lewin, Gill Rumsby, Christopher J. Danpure

J Biol Chem. 2013 Jan 25; 288(4): 2475–2484. Published online 2012 Dec 10. doi: 10.1074/jbc.M112.432617

PMCID:: PMC3554916

Abstract Article PDF–4.1M

Select item 332843219.

Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1

Krisztián Fodor, Janina Wolf, Ralf Erdmann, Wolfgang Schliebs, Matthias Wilmanns

PLoS Biol. 2012 Apr; 10(4): e1001309. Published online 2012 Apr 17. doi: 10.1371/journal.pbio.1001309

PMCID:: PMC3328432

Abstract Article PDF–696K

Select item 327138420.

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I

Elisa Oppici, Riccardo Montioli, Antonio Lorenzetto, Silvia Bianconi, Carla Borri Voltattorni, Barbara Cellini

Mol Genet Metab. 2012 Jan; 105(1): 132–140. doi: 10.1016/j.ymgme.2011.09.033

PMCID:: PMC3271384

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