Holmes RP, Assimos DG. Glyoxylate synthesis, and its modulation and influence on oxalate synthesis. J Urol. 1998;160(5):1617–24.
Burns Z, Knight J, Fargue S, et al. Future treatments for hyperoxaluria. Curr Opin Urol. 2020;30(2):171–6.
Liebow A, Li X, Racie T, et al. An investigational RNAi therapeutic targeting glycolate oxidase reduces oxalate production in models of primary hyperoxaluria. J Am Soc Nephrol. 2017;28:494–503.
Lai C, Pursell N, Gierut J, et al. Specific inhibition of hepatic lactate dehydrogenase reduces oxalate production in mouse models of primary hyperoxaluria. Mol Ther. 2018;26(8):1983–95.
Wood KD, Holmes RP, Erbe D, et al. Reduction in urinary oxalate excretion in mouse models of primary hyperoxaluria by RNA interference inhibition of liver lactate dehydrogenase activity. Biochim Biophys Acta Mol Basis Dis. 2019;1865(9):2203–9.
Frishberg Y, Zeharia A, Lyakhovetsky R, Bargal R, Belostotsky R. Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. J Med Genet. 2014;51(8):526–9. https://doi.org/10.1136/jmedgenet-2014-102529.
CAS Article PubMed Google Scholar
McGregor TL, Hunt KA, Yee E, et al. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. Elife. 2020;9:e54363.
Kanno T, Sudo K, Takeuchi I, et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta. 1980;108(2):267–76.
Nishimura Y, Honda N, Ohyama K, et al. Lactate dehydrogenase A subunit deficiency. Isozymes Curr Top Biol Med Res. 1983;11:51–64.
Maekawa M, Kanda S, Sudo K, et al. Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. Am J Hum Genet. 1984;36(6):1204–14.
CAS PubMed PubMed Central Google Scholar
Kanno T, Sudo K, Maekawa M, et al. Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. Clin Chim Acta. 1988;173(1):89–98.
Maekawa M, Kanno T, Sudo K. Myoglobinuria due to enzyme abnormalities in glycolytic pathway: especially lactate dehydrogenase M subunit deficiency. Rinsho Byori. 1991;39(2):124–32.
Ariceta G, Barrios K, Brown BD, Hoppe B, Rosskamp R, Langman CB. Hepatic lactate dehydrogenase A: an RNA interference target for the treatment of all known types of primary hyperoxaluria. Kidney Int Rep. 2021;6:1088–98.
Garrelfs SF, Frishberg Y, Hulton SA, et al. Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1. N Engl J Med. 2021;384:1216–26.
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369(7):649–58.
Salido E, Pey AL, Rodriguez R, et al. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta. 2012;1822(9):1453–64.
Lieske JC, Monico CG, Holmes WS, et al. International registry for primary hyperoxaluria. Am J Nephrol. 2005;25(3):290–6. https://doi.org/10.1159/000086360.
Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012;8(8):467–75. https://doi.org/10.1038/nrneph.2012.113.
CAS Article PubMed Google Scholar
Cochat P, Hulton SA, Acquaviva C, et al. Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27(5):1729–36. https://doi.org/10.1093/ndt/gfs078.
CAS Article PubMed Google Scholar
Bergstralh EJ, Monico CG, Lieske JC, et al. Transplantation outcomes in primary hyperoxaluria. Am J Transplant. 2010;10(11):2493–501. https://doi.org/10.1111/j.1600-6143.2010.03271.x.
CAS Article PubMed PubMed Central Google Scholar
Cramer SD, Ferree PM, Lin K, et al. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet. 1999;11:2063–9.
Monico CG, Rossetti S, Belostotsky R, et al. Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol. 2011;6(9):2289–95.
Belostotsky R, Seboun E, Idelson GH, et al. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010;87:392–9.
Fire A, Xu S, Montgomery MK, et al. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature. 1998;391(6669):806–11.
Hannon GJ. RNA interference. Nature. 2002;418(6894):244–51.
Nair JK, Willoughby JL, Chan A, et al. Multivalent N-acetylgalactosamine-conjugated siRNA localizes in hepatocytes and elicits robust RNAi-mediated gene silencing. J Am Chem Soc. 2014;136(49):16958–61.
Wu YT, Jiaang WT, Lin KG, et al. A new N-acetylgalactosamine containing peptide as a targeting vehicle for mammalian hepatocytes via asialoglycoprotein receptor endocytosis. Curr Drug Deliv. 2004;1(2):119–27.
Bobbin ML, Rossi JJ. RNA interference (RNAi)-based therapeutics: delivering on the promise? Annu Rev Pharmacol Toxicol. 2016;56:103–22. https://doi.org/10.1146/annurev-pharmtox-010715-103633.
CAS Article PubMed Google Scholar
Scott LJ, Keam SJ. Lumasiran: first approval. Drugs. 2021;81:277–82.
Frishberg Y, Deschênes G, Groothoff JW, et al. Phase 1/2 study of lumasiran for treatment of primary hyperoxaluria type 1: a placebo-controlled randomized clinical trial. Clin J Am Soc Nephrol. 2021;16:1025–36.
Sas DJ, Magen D, Hayes W, et al. Phase 3 trial of lumasiran for primary hyperoxaluria type 1: a new RNAi therapeutic in infants and young children. Genet Med. 2022;24(3):654–62.
Dicerna Pharmaceuticals, Inc. Dicerna reports positive top-line results from PHYOX™2 pivotal clinical trial of nedosiran for the treatment of primary hyperoxaluria. 2021. https://investors.dicerna.com/news-releases/news-release-details/dicerna-reports-positive-top-line-results-phyoxtm2-pivotal. Accessed 15 Mar 2022.
Hoppe B, Koch A, Cochat P, et al. Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHOX1) in primary hyperoxaluria. Kidney Int. 2022;101(3):626–34.
Dicerna Pharmaceuticals, Inc. Dicerna announces results for PHYOX™4, single-dose study of nedosiran in primary hyperoxaluria type 3 (PH3). 2021. https://www.businesswire.com/news/home/20211019005355/en/. Accessed 15 Mar 2022.
Hulton SA, Groothoff JW, Frishberg Y, et al. Randomized clinical Trial on the long-term efficacy and safety of lumasiran in patients with primary hyperoxaluria type 1. Kidney Int Rep. 2021;7(3):494–506. https://doi.org/10.1016/j.ekir.2021.12.001.
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