163 related articles for article (PubMed ID: 26161999)
21. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
Danpure CJ; Purdue PE; Fryer P; Griffiths S; Allsop J; Lumb MJ; Guttridge KM; Jennings PR; Scheinman JI; Mauer SM
Am J Hum Genet; 1993 Aug; 53(2):417-32. PubMed ID: 8101040
[TBL] [Abstract][Full Text] [Related]
22. Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
Pey AL; Albert A; Salido E
Biomed Res Int; 2013; 2013():687658. PubMed ID: 23956997
[TBL] [Abstract][Full Text] [Related]
23. Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
Oppici E; Montioli R; Cellini B
Biochim Biophys Acta; 2015 Sep; 1854(9):1212-9. PubMed ID: 25620715
[TBL] [Abstract][Full Text] [Related]
24. Folding Defects Leading to Primary Hyperoxaluria.
Oppici E; Dindo M; Conter C; Borri Voltattorni C; Cellini B
Handb Exp Pharmacol; 2018; 245():313-343. PubMed ID: 29071511
[TBL] [Abstract][Full Text] [Related]
25. Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B
Dindo M; Oppici E; Dell'Orco D; Montone R; Cellini B
J Inherit Metab Dis; 2018 Mar; 41(2):263-275. PubMed ID: 29110180
[TBL] [Abstract][Full Text] [Related]
26. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.
Cellini B; Montioli R; Voltattorni CB
Biochim Biophys Acta; 2011 Nov; 1814(11):1577-84. PubMed ID: 21176891
[TBL] [Abstract][Full Text] [Related]
27. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.
Nishiyama K; Funai T; Yokota S; Ichiyama A
J Cell Biol; 1993 Dec; 123(5):1237-48. PubMed ID: 8245128
[TBL] [Abstract][Full Text] [Related]
28. Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
Belostotsky R; Lyakhovetsky R; Sherman MY; Shkedy F; Tzvi-Behr S; Bar R; Hoppe B; Reusch B; Beck BB; Frishberg Y
J Mol Med (Berl); 2018 Jul; 96(7):621-630. PubMed ID: 29777253
[TBL] [Abstract][Full Text] [Related]
29. Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
Vankova P; Pacheco-Garcia JL; Loginov DS; Gómez-Mulas A; Kádek A; Martín-Garcia JM; Salido E; Man P; Pey AL
FEBS Lett; 2024 Feb; 598(4):485-499. PubMed ID: 38243391
[TBL] [Abstract][Full Text] [Related]
30. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Nagara M; Tiar A; Ben Halim N; Ben Rhouma F; Messaoud O; Bouyacoub Y; Kefi R; Hassayoun S; Zouari N; Ben Ammar MS; Abdelhak S; Chemli J
Gene; 2013 Sep; 527(1):316-20. PubMed ID: 23810941
[TBL] [Abstract][Full Text] [Related]
31. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
Danpure CJ
J Nephrol; 1998; 11 Suppl 1():8-12. PubMed ID: 9604801
[TBL] [Abstract][Full Text] [Related]
32. Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.
Danpure CJ; Jennings PR
Clin Sci (Lond); 1988 Sep; 75(3):315-22. PubMed ID: 3416563
[TBL] [Abstract][Full Text] [Related]
33. Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.
Cellini B; Lorenzetto A; Montioli R; Oppici E; Voltattorni CB
Biochimie; 2010 Dec; 92(12):1801-11. PubMed ID: 20713123
[TBL] [Abstract][Full Text] [Related]
34. Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Fargue S; Knight J; Holmes RP; Rumsby G; Danpure CJ
Biochim Biophys Acta; 2016 Jun; 1862(6):1055-62. PubMed ID: 26854734
[TBL] [Abstract][Full Text] [Related]
35. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
Lage MD; Pittman AM; Roncador A; Cellini B; Tucker CL
PLoS One; 2014; 9(4):e94338. PubMed ID: 24718375
[TBL] [Abstract][Full Text] [Related]
36. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg C; Rumsby G
J Nephrol; 1998; 11 Suppl 1():15-7. PubMed ID: 9604803
[TBL] [Abstract][Full Text] [Related]
37. Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
Am J Nephrol; 2005; 25(3):264-8. PubMed ID: 15961945
[TBL] [Abstract][Full Text] [Related]
38. Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.
Oppici E; Fodor K; Paiardini A; Williams C; Voltattorni CB; Wilmanns M; Cellini B
Proteins; 2013 Aug; 81(8):1457-65. PubMed ID: 23589421
[TBL] [Abstract][Full Text] [Related]
39. Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Gatticchi L; Dindo M; Pampalone G; Conter C; Cellini B; Takayama T
Biochem Biophys Res Commun; 2023 Feb; 645():118-123. PubMed ID: 36682331
[TBL] [Abstract][Full Text] [Related]
40. Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
Watts RW
Adv Enzyme Regul; 1992; 32():309-27. PubMed ID: 1496924
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]