Affiliation: University of Michigan
- In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cellsJess Thoene
Department of Pediatric Genetics, University of Michigan, Ann Arbor, MI, USA Electronic address
Mol Genet Metab 109:77-85. 2013..We conclude that BVES is an effective method to express and transfer functional transmembrane proteins so as to study their properties in mammalian cells, and has a generic potential for transport protein replacement therapy...
- Mutations of CTNS causing intermediate cystinosisJ Thoene
Department of Pediatrics, University of Michigan, Ann Arbor 48109 0408, USA
Mol Genet Metab 67:283-93. 1999..Partial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated...
- A review of the role of enhanced apoptosis in the pathophysiology of cystinosisJess G Thoene
Division of Pediatric Genetics, University of Michigan, Ann Arbor, MI 48109 0718, USA
Mol Genet Metab 92:292-8. 2007..Modification of this process by other genes may explain the milder forms of the disease...
- CystinosisWilliam A Gahl
Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892 1830, USA
N Engl J Med 347:111-21. 2002
- Lysosomal cystine augments apoptosis and causes the phenotype in cystinosisJess G Thoene
Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
Beijing Da Xue Xue Bao 37:8-9. 2005..We propose that during apoptosis, permeablized lysosomes permit cystine to reach the cytosol where mixed disulfide formation occurs, augmenting apoptosis by interaction with a variety of pro-apoptotic proteins...
- Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase CdeltaMargaret A Park
The Hayward Genetics Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA
J Am Soc Nephrol 17:3167-75. 2006..It is proposed that abnormally increased apoptosis plays a role in evolution of the cystinotic phenotype...
- Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genesAmanda Helip-Wooley
Hayward Human Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
Exp Cell Res 292:89-100. 2004..Sucrose-induced vacuolation is a useful model in which to study the regulation of lysosomal gene expression and biogenesis...
- Potential role of apoptosis in development of the cystinotic phenotypeMargaret A Park
Hayward Genetic Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA
Pediatr Nephrol 20:441-6. 2005..Apoptosis is a major final common pathway for many disease states. Therefore, a better understanding of the effect of lysosomal cystine on apoptosis may help to clarify development of other diseases...
- First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and futureRobert Kleta
Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Nephrol 20:452-4. 2005