JessThoeneMD

PubMed

• 2 citations
  ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
  Varsha Venkatarangan, Weichao Zhang, Xi Yang, Jess Thoene, Si Houn Hahn
  The Journal of Clinical Investigation. 2023-10-02
• 7 citations
  In vitro activity of cysteamine against SARS-CoV-2 variants.
  Jess Thoene, Robert F Gavin, Aaron Towne, Lauren Wattay, Maria Grazia Ferrari
  Molecular Genetics and Metabolism. 2022-09-05
• In memoriam: Jerry Allan Schneider, 1937-2021.
  Bruce A Barshop, Adam J Jonas, William A Gahl, Jess G Thoene
  Molecular Genetics and Metabolism. 2022-06-02

Journal Articles

• Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency  
  Quinonez, SC, Leber, SM, Martin, DM, Thoene, JG, and Bedoyan, JK, Pediatric Neurology, 1/1/2013
• In Vitro Correction of Lysosomal Transport by Microvesicles Derived from Baculovirus-infected Spodoptera Cells  
  Thoene J, Goss T, Witcher M, Mullet J, N'Kuli F,VanDer Smissen P, Courtoy P, Hahn S, Mol Gen Metab, 1/1/2013
• Enhanced Apoptosis in the Pathophysiology of Cystinosis  
  Thoene J, Current Pediatric Reviews, 1/1/2011
• The Redox Status of Cystinotic Fibroblasts  
  Vitvitsky, V, Witcher, M, Banerjee, R, Thoene, J, Molecular Genetics and Metabolism, 1/1/2010
• The Incidence of Atubular Glomeruli in Nephropathic Cystinosis Renal Biopsies  
  Larsen C, Walker P, Thoene J, Molecular Genetics and Metabolism, 1/1/2010
• Increased Apoptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results from Cysteinylation of PKC Delta  
  Park M, Pejovic V, Kerisit K, Junius S, Thoene J, J Am Soc Neph, 1/1/2006
• Design, Synthesis and Initial In Vitro Evaluation of Novel Prodrugs for the Treatment of Cystinosis  
  R.J. Anderson, D. Cairns, W.A. Cardwell, M. Case, P.W. Groundwater, A.G. Hall, L. Hogarth, A.L. Jones, O. Meth-Cohn, P. Suryadevara, A. Tindall & J.G. Thoene, Letters in Drug Design & Discovery, 1/1/2006
• Genetic/Metabolic Health Care Delivery During and After Hurricanes Katrina and Rita  
  Andersson H, Narumanchi T, Cunningham A, and Bowdish B, and Thoene, J, Molecular Genetics and Metabolism, 1/1/2006
• Potential Role of Apoptosis in Development of the Cystinosis Phenotype  
  Park M, Thoene J, Pediatric Nephrology, 1/1/2005
• High Protein Diet Mimics Hypertyrosinemia in Newborn Infants  
  Techakittiroj C, Cunningham A, Hooper PF, Andersson H, Thoene J, Journal of Pediatrics, 1/1/2005
• Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis  
  Thoene, J., Journal of Peking University (Health Sciences), 1/1/2005
• Sucrose-Induced Vacuolation Results in Increased Expression of Cholesterol Biosynthesis and Lysosomal Genes  
  Helip-Wooley A, Thoene JG, Experimental Cell Research, 1/1/2004
• Orphan Drugs and Orphan Tests in the USA  
  Thoene J, Community Genetics, 1/1/2004
• Cystinosis  
  Gahl WA, Thoene JG, Schneider JA, New Eng J Med, 1/1/2002
• Mutations of CTNS causing intermediate cystinosis  
  Thoene, J., Lemons, R., Anikster, Y., Mullet, J., Paelicke, K., Lucero, C., Gahl, W., Schneider, J., Shu, S.G., and Campbell, H. T., Molecular Genetics and Metabolism, 1/1/1999
• Treatment of urea cycle disorders  
  Thoene, J.G., Journal of Pediatrics, 1/1/1999
• CTNS mutations in an American-based population of cystinosis patients  
  Shotelersuk, V., Larson, D., Anikster, Y, McDowell, G., Lemons, R., Bernardini, I., Guo, J., Thoene, J., Gahl, W., Am Journal of Human Genetics, 1/1/1998
• Characterization of cysteamine as a potential contraceptive anti-HIV agent  
  Anderson, R.A., Feathergill, K., Kirkpatrick, R., Zaneveld, L.J.D., Coleman, K.T., Spear, P.G., Cooper, M.D., Waller, D.P., Thoene, J.G., Journal of Andrology, 1/1/1998
• Munchausen Syndrome by Proxy, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• Orphan Tests, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• Lactic Acidosis, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• Cystinosis, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1996
• A comparative study of indomethacin for treatment of the Fanconi Syndrome in cystinosis  
  Clark, K., Slyman, D., Schneider, J., Thoene, J., Stetz, S., Gahl, W., Bernardini, I., Leu, P., Seabring, N., Journal of Rare Diseases, 1/1/1996
• Safety and Feasibility of Liver-Direct Ex Vivo Gene Therapy for Homozygous Familial Hypercholesterolemia  
  Raper, S., Grossman, M., Rader, D.J., Thoene, J.G., Clark III, B.J., Kolansky, D.M., Muller, D.W., and Wilson, J.M., Annals of Surgery, 1/1/1996
• Cystinosis  
  Thoene, J., J Inherited Metab Disord, 1/1/1995
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Books/Book Chapters

• Small Molecule Therapy of Genetic Disease 
  Chapter: Cysteamine Treatment of Nephropathic Cystinosis 
  Thoene, J.Editors: Thoene, J.G..Cambridge University Press2010
• Gellis & Kagan’s Current Pediatric Therapy 
  Chapter: Lysosomal Storage Diseases. Cystinosis. 
  Page 739 - 741Thoene, J.Editors: Burg, Ingelfinger, Polin, Gershon.W.B. Saunders CompanyEdition 17th,2002
• The Metabolic and Molecular Bases of Inherited Disease 
  Chapter: Cystinosis: A disorder of lysosomal membrane transport. 
  Page 5085 - 5108Gahl, W.A., Thoene, J., Schneider, J.Editors: C. Scriver, A. Beaudet, W. Sly, D. Valle.McGraw HillEdition 8th,2001
• A Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases. 
  Chapter: Lysosomal Transport Defects 
  Page 331 - 340Thoene, J.Editors: N. Blair, M. Duran, M. Blaskovics.Chapman and Hall Medical, London, England1996
• Internal Medicine 
  Chapter: Disorders of Amino Acid Metabolism 
  Page 1462 - 1472Thoene, J.Editors: J. Stein.Mosby, St. Louis, MOEdition 4th,1994
• Pathophysiology of Lysosomal Transport 
  Chapter: Lysosomal Nucleic Acid Catabolism and Carrier Mediated Transport of Nucleosides 
  Pisoni, R, and Thoene, J.Editors: J. Thoene.CRC Press, Boca Raton, FL1992
• Pathophysiology of Lysosomal Transport. 
  Chapter: Overview. 
  Thoene, J.Editors: J. Thoene.CRC Press, Boca Raton, FL1992
• Pathophysiology of Lysosomal Transport. 
  Chapter: Transport of Phosphate and Calcium by Human Fibroblast Lysosomes 
  Pisoni, R, and Thoene, J.Editors: J. Thoene.CRC Press, Boca Raton, FL1992
• The Physician’s Guide to Rare Diseases. 
  Chapter: Metabolic Diseases 
  Thoene, J.Editors: J. Thoene.Dowden Publishing, Montvale, NJ1992
• Techniques in Diagnostic Human Biochemical Genetics. 
  Chapter: Volatile Organic Acid Profiling in Physiological Fluids Using Gas Chromatography/Mass Spectrometry 
  Page 133 - 141Buchanan, D.N., and Thoene, J.G.Editors: F. Hommes.Wiley-Liss, Inc.1991
• The Metabolic Basis of Inherited Disease 
  Chapter: Lysosomal transport disorders - Cystinosis and sialic acid storage disorders 
  Page 2619 - 2647Gahl, W., Renlund, M. and Thoene, J.Editors: C. Scriver, A. Beaudet, W. Sly, D. Valle.McGraw HillEdition 6th,1989
• Clinical Studies in Medical Biochemistry 
  Chapter: Biotin and Multiple Carboxylase Deficiency 
  Page 89 - 95Thoene, J. and Buchanan, DEditors: R. Glew and S. Peters.Oxford University Press1987
• Cooperative Approaches to Research and Development of Orphan Drugs. 
  Chapter: Therapy of Cystinosis 
  Page 157 - 162Thoene, J.Editors: M. Van Woert and E. Chung.Alan R. Liss, New York, NY1985
• Pediatric Nephrology 
  Chapter: New Approaches in the Medical Treatment of Cystinosis 
  Page 168 - 171Thoene, J.Editors: J. Brodehl and J.H. H.Ehrich.Springer-Verlag, Berlin, Germany1984
• Internal Medicine. 
  Chapter: Disorders of Amino Acid Metabolism 
  Page 1874 - 1883Thoene, J.Editors: J. Stein, M.D..Little Brown & Co., Boston, MA1983
• Orphan Drugs/Orphan Diseases 
  Chapter: Cysteamine Treatment of Nephropathic Cystinosis 
  Page 125 - 131Thoene, J.Editors: G. Brewer.Alan R. Liss1983
• Subcommittee on Amino Acids of the Nutrition Committee of the American Academy of Pediatrics Under Contract with the Food and Drug Administration 
  Chapter: Therapy of Urea Cycle Disorders in Diet Therapy for MSUD and Organic Acidurias. 
  Page 15 - 22Thoene, J. & Nyhan, W.Evanston, IL1978
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Abstracts/Posters

• Correction of Lysosomal Cystine Storage in Cystinotic Fibroblasts by Recombinant Cystinosin
  Thoene, J, and Witcher, M, PAS meeting, Vancouver, Canada, 1/2/2010
• Effect of Cysteamine (Mercaptoethylamine, MEA) on HIV-I Replication In Vitro.
  Gunnarsson G., Hammer S., McGrath J., Ladd E., and Thoene, J.G., IXth Int Conf on AIDS, Berlin, Germany, 1/1/1993
• In-vitro Effectiveness of Aminothiols and Disulfides Against HIV.
  Thoene, J.G., Clinical Research, 1/1/1992

Other

• Dihydrolipoamide Dehydrogenase Deficiency. 
  Quinonez SC, Thoene JG (Pagon RA, Adam MP, Ardinger HH, et al., editors), GeneReviews
  http://www.ncbi.nlm.nih.gov/books/NBK220444/
  Seattle, WA - 1/17/2014
• Citrullinemia Type I 
  Thoene JG, GeneReviews at GeneTests:Medical Genetics Information Resource [database online]
  http://www.genetests.org
  1/1/2011
• Citrullinemia Type I. 
  Thoene JG, GeneReviews at GeneTests: Medical Genetics Information Resource [database online]
  1/1/2009