Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Journal Of Medicinal Chemistry
Grottelli, Silvia S; Annunziato, Giannamaria G; Pampalone, Gioena G; Pieroni, Marco M; Dindo, Mirco M; Ferlenghi, Francesca F; Costantino, Gabriele G; Cellini, Barbara B
Halfon, Matthieu M; Cochat, Pierre P; Kissling, Sebastien S; Dattner, Nicolas N; de Leval, Laurence L; Fakhouri, Fadi F; Pruijm, Menno M; Bonny, Olivier O
Primary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study.
Frontiers In Medicine
Wang, Xiangling X; Danese, David D; Brown, Thomas T; Baldwin, Jessica J; Sajeev, Gautam G; Cook, Erin E EE; Wang, Yao Y; Xu, Chunyi C; Yang, Hongbo H; Moritz, Michael L ML
Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.
Journal Of Personalized Medicine
Dindo, Mirco M; Ambrosini, Giulia G; Oppici, Elisa E; Pey, Angel L AL; O'Toole, Peter J PJ; Marrison, Joanne L JL; Morrison, Ian E G IEG; Butturini, Elena E; Grottelli, Silvia S; Costantini, Claudio C; Cellini, Barbara B
Natural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis.
Frontiers In Medicine
Sas, David J DJ; Enders, Felicity T FT; Gunderson, Tina M TM; Mehta, Ramila A RA; Olson, Julie B JB; Seide, Barbara M BM; Banks, Carly J CJ; Dehmel, Bastian B; Pellikka, Patricia A PA; Lieske, John C JC; Milliner, Dawn S DS
Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.
Pediatric Nephrology (Berlin, Germany)
Metry, Elisabeth L EL; van Dijk, Liza M M LMM; Peters-Sengers, Hessel H; Oosterveld, Michiel J S MJS; Groothoff, Jaap W JW; Ploeg, Rutger J RJ; Stel, Vianda S VS; Garrelfs, Sander F SF
Small Molecule-Based Enzyme Inhibitors in the Treatment of Primary Hyperoxalurias.
Journal Of Personalized Medicine
Moya-Garzon, Maria Dolores MD; Gomez-Vidal, Jose Antonio JA; Alejo-Armijo, Alfonso A; Altarejos, Joaquin J; Rodriguez-Madoz, Juan Roberto JR; Fernandes, Miguel Xavier MX; Salido, Eduardo E; Salido, Sofia S; Diaz-Gavilan, Monica M
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: AGXT: G170R; rs121908529
Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.
Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure.
Clinical Journal Of The American Society Of Nephrology : Cjasn
Zhao, Fang F; Bergstralh, Eric J EJ; Mehta, Ramila A RA; Vaughan, Lisa E LE; Olson, Julie B JB; Seide, Barbara M BM; Meek, Alicia M AM; Cogal, Andrea G AG; Lieske, John C JC; Milliner, Dawn S DS; ,
The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
Plos One
Mesa-Torres, Noel N; Fabelo-Rosa, Israel I; Riverol, Debora D; Yunta, Cristina C; Albert, Armando A; Salido, Eduardo E; Pey, Angel L AL
Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.