J Thoene

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. ncbi In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells
    Jess Thoene
    Department of Pediatric Genetics, University of Michigan, Ann Arbor, MI, USA Electronic address
    Mol Genet Metab 109:77-85. 2013
  2. ncbi Mutations of CTNS causing intermediate cystinosis
    J Thoene
    Department of Pediatrics, University of Michigan, Ann Arbor 48109 0408, USA
    Mol Genet Metab 67:283-93. 1999
  3. ncbi A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
    Jess G Thoene
    Division of Pediatric Genetics, University of Michigan, Ann Arbor, MI 48109 0718, USA
    Mol Genet Metab 92:292-8. 2007
  4. ncbi Cystinosis
    William 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
  5. ncbi Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis
    Jess G Thoene
    Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
    Beijing Da Xue Xue Bao 37:8-9. 2005
  6. ncbi Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta
    Margaret A Park
    The Hayward Genetics Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA
    J Am Soc Nephrol 17:3167-75. 2006
  7. ncbi Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes
    Amanda Helip-Wooley
    Hayward Human Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
    Exp Cell Res 292:89-100. 2004
  8. ncbi Potential role of apoptosis in development of the cystinotic phenotype
    Margaret A Park
    Hayward Genetic Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA
    Pediatr Nephrol 20:441-6. 2005
  9. ncbi First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future
    Robert Kleta
    Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Nephrol 20:452-4. 2005

Collaborators

Detail Information

Publications9

  1. ncbi In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells
    Jess 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...
  2. ncbi Mutations of CTNS causing intermediate cystinosis
    J 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...
  3. ncbi A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
    Jess 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...
  4. ncbi Cystinosis
    William 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
  5. ncbi Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis
    Jess 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...
  6. ncbi Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta
    Margaret 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...
  7. ncbi Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes
    Amanda 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...
  8. ncbi Potential role of apoptosis in development of the cystinotic phenotype
    Margaret 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...
  9. ncbi First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future
    Robert Kleta
    Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Nephrol 20:452-4. 2005