OxalEurope Publications

  1. A. Kukreja, M. Lasaro, C. Cobaugh, C. Forbes, J.-P. Tang, X. Gao, C. Martin-Higueras, A. L. Pey, E. Salido, S. Sobolov und R. R. Subramanian, "Systemic Alanine Glyoxylate Aminotransferase Messenger RNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1.," Nucleic acid therapeutics, 1 2019.
  2. J. Á. Fernández-Higuero, I. Betancor-Fernández, N. Mesa-Torres, A. Muga, E. Salido und A. L. Pey, "Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I.," Advances in protein chemistry and structural biology, Bd. 114, pp. 119-152, 2019.
  3. A. Bruel, J. Bacchetta, T. Ginhoux, C. Rodier-Bonifas, A.-L. Sellier-Leclerc, B. Fromy, P. Cochat, D. Sigaudo-Roussel und L. Dubourg, "Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I.," Pediatric nephrology (Berlin, Germany), Bd. 34, Nr. 2, pp. 319-327, 2 2019.
  4. M. Dindo, C. Conter, E. Oppici, V. Ceccarelli, L. Marinucci und B. Cellini, "Molecular basis of primary hyperoxaluria: clues to innovative treatments.," Urolithiasis, Bd. 47, Nr. 1, pp. 67-78, 2 2019.
  5. C. Martin-Higueras, I. Ludwig-Portugall, B. Hoppe und C. Kurts, "Targeting kidney inflammation as a new therapy for primary hyperoxaluria?," Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 8 2018.
  6. C. Lai, N. Pursell, J. Gierut, U. Saxena, W. Zhou, M. Dills, R. Diwanji, C. Dutta, M. Koser, N. Nazef, R. Storr, B. Kim, C. Martin-Higueras, E. Salido, W. Wang, M. Abrams, H. Dudek und B. D. Brown, "Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria.," Molecular therapy : the journal of the American Society of Gene Therapy, Bd. 26, Nr. 8, pp. 1983-1995, 8 2018.
  7. M. D. Moya-Garzón, C. Martín Higueras, P. Peńalver, M. Romera, M. X. Fernandes, F. Franco-Montalbán, J. A. Gómez-Vidal, E. Salido und M. Díaz-Gavilán, "Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1.," Journal of medicinal chemistry, Bd. 61, Nr. 16, pp. 7144-7167, 8 2018.
  8. G. Woodward, R. Pryke, B. Hoppe und G. Rumsby, "Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria.," Annals of clinical biochemistry, p. 4563218811365, 11 2018.
  9. J. J. Talati, S.-A. Hulton, S. F. Garrelfs, W. Aziz, S. Rao, A. Memon, Z. Nazir, R. Biyabani, S. Qazi, I. Azam, A. H. Khan, J. Ahmed, L. Jafri und M. Zeeshan, "Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.," Urolithiasis, Bd. 46, Nr. 2, pp. 187-195, 4 2018.
  10. A. Weigert, C. Martin-Higueras und B. Hoppe, "Novel therapeutic approaches in primary hyperoxaluria.," Expert opinion on emerging drugs, pp. 1-9, 12 2018.
  11. R. Siener, B. Hoppe, P. Löhr, S. C. Müller und S. Latz, "Metabolic profile and impact of diet in patients with primary hyperoxaluria.," International urology and nephrology, Bd. 50, Nr. 9, pp. 1583-1589, 9 2018.
  12. S. Fargue, D. S. Milliner, J. Knight, J. B. Olson, W. T. Lowther und R. P. Holmes, "Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria.," Journal of the American Society of Nephrology : JASN, Bd. 29, Nr. 6, pp. 1615-1623, 6 2018.
  13. E. Oppici, M. Dindo, C. Conter, C. Borri Voltattorni und B. Cellini, "Folding Defects Leading to Primary Hyperoxaluria.," Handbook of experimental pharmacology, Bd. 245, pp. 313-343, 2018.
  14. N. Zabaleta, M. Barberia, C. Martin-Higueras, N. Zapata-Linares, I. Betancor, S. Rodriguez, R. Martinez-Turrillas, L. Torella, A. Vales, C. Olagüe, A. Vilas-Zornoza, L. Castro-Labrador, D. Lara-Astiaso, F. Prosper, E. Salido, G. Gonzalez-Aseguinolaza und J. R. Rodriguez-Madoz, "CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I.," Nature communications, Bd. 9, Nr. 1, p. 5454, 12 2018.
  15. M. Dindo, E. Oppici, D. Dell'Orco, R. Montone und B. Cellini, "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, javax.xml.bind.JAXBElement@29b4a6e0, .," Journal of inherited metabolic disease, Bd. 41, Nr. 2, pp. 263-275, 3 2018.
  16. A. Ventzke, M. Feldkötter, A. Wei, J. Becker, B. B. Beck und B. Hoppe, "Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.," Pediatric nephrology (Berlin, Germany), Bd. 33, Nr. 7, pp. 1275-1276, 7 2018.
  17. D. Milliner, B. Hoppe und J. Groothoff, "A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.," Urolithiasis, Bd. 46, Nr. 4, pp. 313-323, 8 2018.
  18. A. Roncador, E. Oppici, M. Talelli, A. N. Pariente, M. Donini, S. Dusi, C. B. Voltattorni, M. J. Vicent und B. Cellini, "Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.," Nanomedicine : nanotechnology, biology, and medicine, Bd. 13, Nr. 3, pp. 897-907, 4 2017.
  19. A. Pelle, A. Cuccurullo, C. Mancini, R. Sebastiano, G. Stallone, S. Negrisolo, E. Benetti, L. Peruzzi, M. Petrarulo, M. De Marchi, M. Marangella, A. Amoroso, D. Giachino und G. Mandrile, "Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.," Journal of nephrology, Bd. 30, Nr. 2, pp. 219-225, 4 2017.
  20. A. Ventzke, M. Feldkötter, A. Wei, J. Becker, B. B. Beck und B. Hoppe, "Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.," Pediatric nephrology (Berlin, Germany), Bd. 32, Nr. 12, pp. 2263-2271, 12 2017.
  21. C. Martin-Higueras, A. Torres und E. Salido, "Molecular therapy of primary hyperoxaluria.," Journal of inherited metabolic disease, Bd. 40, Nr. 4, pp. 481-489, 7 2017.
  22. E. Richard, J.-M. Blouin, J. Harambat, B. Llanas, S. Bouchet, C. Acquaviva und R. Faille, "Late diagnosis of primary hyperoxaluria type III.," Annals of clinical biochemistry, Bd. 54, Nr. 3, pp. 406-411, 5 2017.
  23. B. Hoppe, P. Niaudet, R. Salomon, J. Harambat, S.-A. Hulton, W. Van't Hoff, S. H. Moochhala, G. Deschęnes, E. Lindner, A. Sjögren und P. Cochat, "A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.," Pediatric nephrology (Berlin, Germany), Bd. 32, Nr. 5, pp. 781-790, 5 2017.
  24. O. Clifford-Mobley, A. Sjögren, E. Lindner und G. Rumsby, "Urine oxalate biological variation in patients with primary hyperoxaluria.," Urolithiasis, Bd. 44, Nr. 4, pp. 333-337, 8 2016.
  25. O. Clifford-Mobley, L. Hewitt und G. Rumsby, "Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.," Annals of clinical biochemistry, Bd. 53, Nr. Pt 4, pp. 485-494, 7 2016.
  26. E. Oppici, R. Montioli, M. Dindo und B. Cellini, "Natural and Unnatural Compounds Rescue Folding Defects of Human Alanine: Glyoxylate Aminotransferase Leading to Primary Hyperoxaluria Type I.," Current drug targets, Bd. 17, Nr. 13, pp. 1482-1491, 2016.
  27. X. Li, J. Knight, S. Fargue, B. Buchalski, Z. Guan, E. W. Inscho, A. Liebow, K. Fitzgerald, W. Querbes, W. Todd Lowther und R. P. Holmes, "Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase.," Biochimica et biophysica acta, Bd. 1862, Nr. 2, pp. 233-239, 2 2016.
  28. C. Dutta, N. Avitahl-Curtis, N. Pursell, M. Larsson Cohen, B. Holmes, R. Diwanji, W. Zhou, L. Apponi, M. Koser, B. Ying, D. Chen, X. Shui, U. Saxena, W. A. Cyr, A. Shah, N. Nazef, W. Wang, M. Abrams, H. Dudek, E. Salido, B. D. Brown und C. Lai, "Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1.," Molecular therapy : the journal of the American Society of Gene Therapy, Bd. 24, Nr. 4, pp. 770-778, 4 2016.
  29. M. Wang, M. Xu, Y. Long, S. Fargue, N. Southall, X. Hu, J. C. McKew, C. J. Danpure und W. Zheng, "High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1.," Scientific reports, Bd. 6, p. 34060, 9 2016.
  30. C. Martin-Higueras, S. Luis-Lima und E. Salido, "Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I.," Molecular therapy : the journal of the American Society of Gene Therapy, Bd. 24, Nr. 4, pp. 719-725, 4 2016.
  31. N. Zapata-Linares, S. Rodriguez, E. Salido, G. Abizanda, E. Iglesias, F. Prosper, G. Gonzalez-Aseguinolaza und J. R. Rodriguez-Madoz, "Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation.," Stem cell research, Bd. 16, Nr. 1, pp. 116-119, 1 2016.
  32. J. Bacchetta, G. Boivin und P. Cochat, "Bone impairment in primary hyperoxaluria: a review.," Pediatric nephrology (Berlin, Germany), Bd. 31, Nr. 1, pp. 1-6, 1 2016.
  33. E. R. Brooks, B. Hoppe, D. S. Milliner, E. Salido, J. Rim, L. M. Krevitt, J. B. Olson, H. E. Price, G. Vural und C. B. Langman, "Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria.," American journal of nephrology, Bd. 43, Nr. 4, pp. 293-303, 2016.
  34. O. Clifford-Mobley, C. Tims und G. Rumsby, "The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre.," Annals of clinical biochemistry, Bd. 52, Nr. Pt 1, pp. 113-121, 1 2015.
  35. E. Oppici, R. Montioli, M. Dindo, L. Maccari, V. Porcari, A. Lorenzetto, S. Chellini, C. B. Voltattorni und B. Cellini, "The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.," ACS chemical biology, Bd. 10, Nr. 10, pp. 2227-2236, 10 2015.
  36. L. Allard, P. Cochat, A.-L. Leclerc, F. Cachat, C. Fichtner, V. C. De Souza, C. D. Garcia, M.-C. Camoin-Schweitzer, M.-A. Macher, C. Acquaviva-Bourdain und J. Bacchetta, "Renal function can be impaired in children with primary hyperoxaluria type 3.," Pediatric nephrology (Berlin, Germany), Bd. 30, Nr. 10, pp. 1807-1813, 10 2015.
  37. G. Bollée, P. Cochat und M. Daudon, "Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.," Canadian journal of kidney health and disease, Bd. 2, p. 31, 2015.
  38. E. Oppici, S. Fargue, E. S. Reid, P. B. Mills, P. T. Clayton, C. J. Danpure und B. Cellini, "Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.," Human molecular genetics, Bd. 24, Nr. 19, pp. 5500-5511, 10 2015.
  39. E. D. Kurt-Sukur, Z. B. Özçakar, S. Fitöz, S. Yilmaz, B. Hoppe und F. Yalçinkaya, "Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.," Klinische Padiatrie, Bd. 227, Nr. 5, pp. 293-295, 9 2015.
  40. E. L. Williams, E. A. L. Bagg, M. Mueller, J. Vandrovcova, T. J. Aitman und G. Rumsby, "Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.," Molecular genetics & genomic medicine, Bd. 3, Nr. 1, pp. 69-78, 1 2015.
  41. N. Mesa-Torres, N. Tomic, A. Albert, E. Salido und A. L. Pey, "Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.," Biomolecules, Bd. 5, Nr. 1, pp. 121-141, 2 2015.
  42. E. Oppici, R. Montioli und B. Cellini, "Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.," Biochimica et biophysica acta, Bd. 1854, Nr. 9, pp. 1212-1219, 9 2015.
  43. F. Madoux, J. A. Janovick, D. Smithson, S. Fargue, C. J. Danpure, L. Scampavia, Y.-T. Chen, T. P. Spicer und P. M. Conn, "Development of a phenotypic high-content assay to identify pharmacoperone drugs for the treatment of primary hyperoxaluria type 1 by high-throughput screening.," Assay and drug development technologies, Bd. 13, Nr. 1, pp. 16-24, 2015.
  44. Y. Fu, R. Rope, S. Fargue, H. T. Cohen, R. P. Holmes und D. M. Cohen, "A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II.," Clinical genetics, Bd. 88, Nr. 5, pp. 494-498, 11 2015.
  45. H. Hoyer-Kuhn, S. Kohbrok, R. Volland, J. Franklin, B. Hero, B. B. Beck und B. Hoppe, "Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.," Clinical journal of the American Society of Nephrology : CJASN, Bd. 9, Nr. 3, pp. 468-477, 3 2014.
  46. N. Mesa-Torres, E. Salido und A. L. Pey, "The lower limits for protein stability and foldability in primary hyperoxaluria type I.," Biochimica et biophysica acta, Bd. 1844, Nr. 12, pp. 2355-2365, 12 2014.
  47. R. Montioli, A. Roncador, E. Oppici, G. Mandrile, D. F. Giachino, B. Cellini und C. Borri Voltattorni, "S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.," Human molecular genetics, Bd. 23, Nr. 22, pp. 5998-6007, 11 2014.
  48. V. Lorenzo, A. Torres und E. Salido, "Primary hyperoxaluria.," Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, Bd. 34, Nr. 3, pp. 398-412, 5 2014.
  49. N. Miyata, J. Steffen, M. E. Johnson, S. Fargue, C. J. Danpure und C. M. Koehler, "Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.," Proceedings of the National Academy of Sciences of the United States of America, Bd. 111, Nr. 40, pp. 14406-14411, 10 2014.
  50. S. Fargue, "Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.," Kidney international, Bd. 86, Nr. 6, pp. 1074-1076, 12 2014.
  51. G. Mandrile, C. S. Woerden, P. Berchialla, B. B. Beck, C. Acquaviva Bourdain, S.-A. Hulton, G. Rumsby und O. Consortium, "Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.," Kidney international, Bd. 86, Nr. 6, pp. 1197-1204, 12 2014.
  52. M. D. Lage, A. M. C. Pittman, A. Roncador, B. Cellini und C. L. Tucker, "Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.," PloS one, Bd. 9, Nr. 4, p. e94338, 2014.