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Items: 1 to 20 of 40

1.
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients
Jiayu Wu, Jing Song, Yanzhao He, Cheng Zhong, Qin Yang, Qiu Li, Mo Wang
Urolithiasis. 2023; 51(1): 123. Published online 2023 Oct 24. doi: 10.1007/s00240-023-01494-8
PMCID:
PMC10598140
AbstractArticlePDF–3.7M
2.
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations
Hoda A. Ahmed, Fatina I. Fadel, Mohamed A. Abdel Mawla, Doaa M. Salah, Mohamed Gamal Fathallah, Khalda Amr
Mol Genet Genomic Med. 2022 Aug; 10(8): e1992. Published online 2022 Jun 3. doi: 10.1002/mgg3.1992
PMCID:
PMC9356549
AbstractArticlePDF–1.1M
3.
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
AbstractArticlePDF–515K
4.
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
AbstractArticlePDF–11M
5.
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
AbstractArticlePDF–469K
6.
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
AbstractArticlePDF–1.0M
7.
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
AbstractArticlePDF–1.5M
8.
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
AbstractArticlePDF–1.4M
9.
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
AbstractArticlePDF–667K
10.
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
AbstractArticlePDF–3.0M
11.
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
AbstractArticlePDF–3.1M
12.
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
AbstractArticlePDF–1.0M
13.
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
AbstractArticlePDF–4.2M
14.
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
AbstractArticlePDF–1.6M
15.
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
AbstractArticlePDF–4.1M
16.
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
AbstractArticle
17.
Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria
Ibtihel Benhaj Mbarek, Saoussen Abroug, Asma Omezzine, Dorsaf Zellama, Abdellatif Achour, Abdelaziz Harbi, Ali Bouslama
BMC Nephrol. 2011; 12: 25. Published online 2011 May 25. doi: 10.1186/1471-2369-12-25
PMCID:
PMC3123632
AbstractArticlePDF–231K
18.
Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting
Snezana Djordjevic, Xiaoxuan Zhang, Mark Bartlam, Sheng Ye, Zihe Rao, Christopher J. Danpure
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2010 Mar 1; 66(Pt 3): 233–236. Published online 2010 Feb 23. doi: 10.1107/S1744309109054645
PMCID:
PMC2833026
AbstractArticlePDF–757K
19.
Structure of GroEL in Complex with an Early Folding Intermediate of Alanine Glyoxylate Aminotransferase
Armando Albert, Cristina Yunta, Rocío Arranz, Álvaro Peña, Eduardo Salido, José María Valpuesta, Jaime Martín-Benito
J Biol Chem. 2010 Feb 26; 285(9): 6371–6376. Published online 2010 Jan 7. doi: 10.1074/jbc.M109.062471
PMCID:
PMC2825432
AbstractArticlePDF–736K
20.
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation
Barbara Cellini, Riccardo Montioli, Alessandro Paiardini, Antonio Lorenzetto, Carla Borri Voltattorni
J Biol Chem. 2009 Mar 27; 284(13): 8349–8358. doi: 10.1074/jbc.M808965200
PMCID:
PMC2659193
AbstractArticlePDF–457K

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