AGXT c.508G>C ;(p.G170R)

Variant ID: 2-241810850-G-C

NM_000030.2(AGXT):c.508G>C;(p.G170R)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.

Frontiers In Genetics
Xin, Qing Q; Dong, Yameng Y; Guo, Wencong W; Zhao, Xiangzhong X; Liu, Zhiying Z; Shi, Xiaomeng X; Lang, Yanhua Y; Shao, Leping L
Publication Date: 2023

Variant appearance in text: PH1: G170R
PubMed Link: 37139236
Variant Present in the following documents:
  • Main text
  • fgene-14-1124745.pdf
View BVdb publication page



Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants.

Molecules (Basel, Switzerland)
Neira, Jose L JL; Naganathan, Athi N AN; Mesa-Torres, Noel N; Salido, Eduardo E; Pey, Angel L AL
Publication Date: 2022-12-10

Variant appearance in text: PH1: G170R
PubMed Link: 36557898
Variant Present in the following documents:
  • Main text
  • molecules-27-08762.pdf
View BVdb publication page



Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.

La Tunisie Medicale
Boussetta, Abir A; Karray, Amina A; Abida, Nesrine N; Jellouli, Manel M; Gargah, Tahar T
Publication Date: 2022

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 36206091
Variant Present in the following documents:
  • Main text
  • tunismedv100i5-410-415.pdf
View BVdb publication page



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
Publication Date: 2022-07-28

Variant appearance in text: AGXT: G170R
PubMed Link: 35830169
Variant Present in the following documents:
  • Main text
  • jm2c00142.pdf
View BVdb publication page



Improving Treatment Options for Primary Hyperoxaluria.

Drugs
Hoppe, Bernd B; Martin-Higueras, Cristina C
Publication Date: 2022-07

Variant appearance in text: PH1: G170R
PubMed Link: 35779234
Variant Present in the following documents:
  • Main text
  • 40265_2022_Article_1735.pdf
View BVdb publication page



Genetic assessment in primary hyperoxaluria: why it matters.

Pediatric Nephrology (Berlin, Germany)
Mandrile, Giorgia G; Beck, Bodo B; Acquaviva, Cecile C; Rumsby, Gill G; Deesker, Lisa L; Garrelfs, Sander S; Gupta, Asheeta A; Bacchetta, Justine J; Groothoff, Jaap J; ,
Publication Date: 2022-06-13

Variant appearance in text: PH1: G170R
PubMed Link: 35695965
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis.

Clinical Kidney Journal
Patterson, Jenny J; Jacob, Zoe Z; Reynolds, Ben C BC
Publication Date: 2022-04

Variant appearance in text: AGXT: GLy170ARG
PubMed Link: 35371448
Variant Present in the following documents:
  • Main text
  • sfab279.pdf
View BVdb publication page



Infantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males.

Cureus
Aldabek, Khaled K; Grossman, Oulimata K OK; Al-Omar, Osama O; Fox, Janelle A JA; Moritz, Michael L ML
Publication Date: 2022-01

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 35237473
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000021673.pdf
View BVdb publication page



New Insights Regarding Organ Transplantation in Primary Hyperoxaluria Type 1.

Kidney International Reports
Sas, David J DJ; Lieske, John C JC
Publication Date: 2022-02

Variant appearance in text: PH1: G170R
PubMed Link: 35155853
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: AGXT: G170R; rs121908529
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Catabolism of Hydroxyproline in Vertebrates: Physiology, Evolution, Genetic Diseases and New siRNA Approach for Treatment.

International Journal Of Molecular Sciences
Belostotsky, Ruth R; Frishberg, Yaacov Y
Publication Date: 2022-01-17

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 35055190
Variant Present in the following documents:
  • Main text
  • ijms-23-01005.pdf
View BVdb publication page



Catabolism of Hydroxyproline in Vertebrates: Physiology, Evolution, Genetic Diseases and New siRNA Approach for Treatment.

International Journal Of Molecular Sciences
Belostotsky, Ruth R; Frishberg, Yaacov Y
Publication Date: 2022-01-17

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 35055190
Variant Present in the following documents:
  • Main text
  • ijms-23-01005.pdf
View BVdb publication page



A stone in the bone.

Jimd Reports
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
Publication Date: 2021-11

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 34765391
Variant Present in the following documents:
  • Main text
  • JMD2-62-6.pdf
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 34616753
Variant Present in the following documents:
  • Main text
  • fmed-08-703305.pdf
View BVdb publication page



Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria.

British Journal Of Clinical Pharmacology
Forbes, Thomas A TA; Brown, Bob D BD; Lai, Chengjung C
Publication Date: 2022-06

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 34022071
Variant Present in the following documents:
  • Main text
  • BCP-88-2525.pdf
View BVdb publication page



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
Publication Date: 2021-04-06

Variant appearance in text: PH1: G170R
PubMed Link: 33917320
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: PH1: G170R
PubMed Link: 33898474
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2021-08

Variant appearance in text: PH1: G170R
PubMed Link: 33830344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calciphylaxis or vascular oxalosis?

Clinical Kidney Journal
El-Saygeh, Skye S; Roese, Douglas D; Moe, Sharon M SM
Publication Date: 2021-01

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 33564451
Variant Present in the following documents:
  • Main text
  • sfz190.pdf
View BVdb publication page



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
Publication Date: 2021-01-27

Variant appearance in text: AGXT: G170R
PubMed Link: 33513899
Variant Present in the following documents:
  • Main text
  • jpm-11-00074.pdf
View BVdb publication page



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
Publication Date: 2021-09

Variant appearance in text: AGXT: G170R
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.

Translational Andrology And Urology
Zhao, Yuanyuan Y; Yang, Yang Y; Zhou, Ping P; Jiang, Jipin J; Chen, Zhishui Z; Du, Dunfeng D
Publication Date: 2020-12

Variant appearance in text: AGXT: G170R
PubMed Link: 33457257
Variant Present in the following documents:
  • Main text
  • tau-09-06-2848.pdf
View BVdb publication page



Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives.

Kidney International Reports
Devresse, Arnaud A; Cochat, Pierre P; Godefroid, Nathalie N; Kanaan, Nada N
Publication Date: 2020-12

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 33305106
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient.

Pediatric Nephrology (Berlin, Germany)
Kempf, Caroline C; Pfau, Anja A; Holle, Johannes J; Müller-Schlüter, Karen K; Bufler, Philip P; Knauf, Felix F; Müller, Dominik D
Publication Date: 2020-09

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 32418144
Variant Present in the following documents:
  • Main text
  • 467_2020_Article_4585.pdf
View BVdb publication page



Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Frontiers In Pharmacology
Lu, Xiulan X; Chen, Weijian W; Li, Liping L; Zhu, Xinyuan X; Huang, Caizhi C; Liu, Saijun S; Yang, Yongjia Y; Zhao, Yaowang Y
Publication Date: 2019

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 30787879
Variant Present in the following documents:
  • Main text
  • fphar-10-00085.pdf
View BVdb publication page



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
Publication Date: 2019-02-07

Variant appearance in text: AGXT: G170R
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report.

Case Reports In Nephrology And Dialysis
Hasan, Asma A; Maynard, Sharon S; Santoriello, Dominick D; Schairer, Henry H
Publication Date: 2018

Variant appearance in text: PH1: G170R
PubMed Link: 30397603
Variant Present in the following documents:
  • Main text
  • cnd-0008-0223.pdf
View BVdb publication page



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
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria.

Indian Journal Of Nephrology
Pinapala, A A; Garg, M M; Kamath, N N; Iyengar, A A
Publication Date: 2017

Variant appearance in text: AGXT: G170R
PubMed Link: 28553045
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of genetic variation on three dimensional structure and function of proteins.

Plos One
Bhattacharya, Roshni R; Rose, Peter W PW; Burley, Stephen K SK; Prlić, Andreas A
Publication Date: 2017

Variant appearance in text: rs121908529
PubMed Link: 28296894
Variant Present in the following documents:
  • Main text
  • pone.0171355.pdf
View BVdb publication page



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
Publication Date: 2017-07

Variant appearance in text: AGXT: G170R
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



Bilateral nephrocalcinosis in primary hyperoxaluria type 1.

Indian Journal Of Nephrology
Mansoor, C A CA; Jemshad, A A; Milliner, D S DS; Bhushan, N K N NK
Publication Date: 2016-09

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 27795638
Variant Present in the following documents:
  • Main text
View BVdb publication page



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; ,
Publication Date: 2016-01-07

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 26656319
Variant Present in the following documents:
  • Main text
View BVdb publication page



Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease.

Case Reports In Hematology
Nematollahi, Pardis P; Mohammadizadeh, Fereshteh F
Publication Date: 2015

Variant appearance in text: AGXT: Gly170Arg
PubMed Link: 26634160
Variant Present in the following documents:
  • CRIHEM2015-402947.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: AGXT: G170R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Plos One
Lage, Melissa D MD; Pittman, Adrianne M C AM; Roncador, Alessandro A; Cellini, Barbara B; Tucker, Chandra L CL
Publication Date: 2014

Variant appearance in text: PH1: G170R
PubMed Link: 24718375
Variant Present in the following documents:
  • Main text
  • pone.0094338.pdf
View BVdb publication page



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
Publication Date: 2013

Variant appearance in text: PH1: G170R
PubMed Link: 24205397
Variant Present in the following documents:
  • Main text
  • pone.0071963.pdf
View BVdb publication page



Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

Biomed Research International
Pey, Angel L AL; Albert, Armando A; Salido, Eduardo E
Publication Date: 2013

Variant appearance in text: PH1: G170R
PubMed Link: 23956997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nephrolithiasis related to inborn metabolic diseases.

Pediatric Nephrology (Berlin, Germany)
Cochat, Pierre P; Pichault, Valérie V; Bacchetta, Justine J; Dubourg, Laurence L; Sabot, Jean-François JF; Saban, Christine C; Daudon, Michel M; Liutkus, Aurélia A
Publication Date: 2010-03

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 19156444
Variant Present in the following documents:
  • 467_2008_Article_1085.pdf
View BVdb publication page



Mitochondrial protein import and human health and disease.

Biochimica Et Biophysica Acta
MacKenzie, James A JA; Payne, R Mark RM
Publication Date: 2007-05

Variant appearance in text: PH1: G170R
PubMed Link: 17300922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

The Journal Of Cell Biology
Leiper, J M JM; Oatey, P B PB; Danpure, C J CJ
Publication Date: 1996-11

Variant appearance in text: PH1: Gly170Arg
PubMed Link: 8922378
Variant Present in the following documents:
  • jc1354939.pdf
View BVdb publication page