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A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.
Thoene JG. Thoene JG. Mol Genet Metab. 2007 Dec;92(4):292-8. doi: 10.1016/j.ymgme.2007.07.008. Epub 2007 Aug 28. Mol Genet Metab. 2007. PMID: 17728168 Review.
Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.
Park MA, Pejovic V, Kerisit KG, Junius S, Thoene JG. Park MA, et al. Among authors: thoene jg. J Am Soc Nephrol. 2006 Nov;17(11):3167-75. doi: 10.1681/ASN.2006050474. Epub 2006 Oct 4. J Am Soc Nephrol. 2006. PMID: 17021265
Orphan drugs and orphan tests in the USA.
Thoene JG. Thoene JG. Community Genet. 2004;7(4):169-72. doi: 10.1159/000082255. Community Genet. 2004. PMID: 15692190 No abstract available.
Potential role of apoptosis in development of the cystinotic phenotype.
Park MA, Thoene JG. Park MA, et al. Among authors: thoene jg. Pediatr Nephrol. 2005 Apr;20(4):441-6. doi: 10.1007/s00467-004-1712-9. Epub 2004 Dec 28. Pediatr Nephrol. 2005. PMID: 15622500 Review.
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
Helip-Wooley A, Park MA, Lemons RM, Thoene JG. Helip-Wooley A, et al. Among authors: thoene jg. Mol Genet Metab. 2002 Feb;75(2):128-33. doi: 10.1006/mgme.2001.3272. Mol Genet Metab. 2002. PMID: 11855931
Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells.
Park M, Helip-Wooley A, Thoene J. Park M, et al. Among authors: thoene j. J Am Soc Nephrol. 2002 Dec;13(12):2878-87. doi: 10.1097/01.asn.0000036867.49866.59. J Am Soc Nephrol. 2002. PMID: 12444206
The redox status of cystinotic fibroblasts.
Vitvitsky V, Witcher M, Banerjee R, Thoene J. Vitvitsky V, et al. Among authors: thoene j. Mol Genet Metab. 2010 Apr;99(4):384-8. doi: 10.1016/j.ymgme.2009.12.010. Epub 2009 Dec 21. Mol Genet Metab. 2010. PMID: 20061170 Free PMC article.
In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.
Thoene J, Goss T, Witcher M, Mullet J, N'Kuli F, Van Der Smissen P, Courtoy P, Hahn SH. Thoene J, et al. Mol Genet Metab. 2013 May;109(1):77-85. doi: 10.1016/j.ymgme.2013.01.014. Epub 2013 Feb 4. Mol Genet Metab. 2013. PMID: 23465695
Cystinosis.
Thoene JG. Thoene JG. J Inherit Metab Dis. 1995;18(4):380-6. doi: 10.1007/BF00710050. J Inherit Metab Dis. 1995. PMID: 7494397 Review.
Important differences in cationic amino acid transport by lysosomal system c and system y+ of the human fibroblast.
Pisoni RL, Thoene JG, Lemons RM, Christensen HN. Pisoni RL, et al. Among authors: thoene jg. J Biol Chem. 1987 Nov 5;262(31):15011-8. J Biol Chem. 1987. PMID: 3499437
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