JessThoeneMD

PubMed

• ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
  Varsha Venkatarangan, Weichao Zhang, Xi Yang, Jess Thoene, Si Houn Hahn, Ming Li> ;The Journal of Clinical Investigation. 2023 Oct 2
• 5 citations
  In vitro activity of cysteamine against SARS-CoV-2 variants.
  Jess Thoene, Robert F Gavin, Aaron Towne, Lauren Wattay, Maria Grazia Ferrari, Jennifer Navarrete, Ranajit Pal> ;Molecular Genetics and Metabolism. 2022 Sep 5
• In memoriam: Jerry Allan Schneider, 1937-2021.
  Bruce A Barshop, Adam J Jonas, William A Gahl, Jess G Thoene> ;Molecular Genetics and Metabolism. 2022 Jun 2
• 1 citations
  Programmed Cell Death in Cystinosis.
  Elizabeth G Ames, Jess G Thoene> ;Cells. 2022 Feb 15
• 3 citations
  Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea.
  Jess G. Thoene, Monte A. DelMonte, Jodi Mullet> ;Molecular Genetics and Metabolism Reports. 2020 Apr 7
• 326 citations
  Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
  Markus Wolff, Katrine M Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, A...> ;Brain. 2017 May 1
• 2 citations
  Introduction to "Extra-Renal Complications of Cystinosis".
  Jess G. Thoene> ;The Journal of Pediatrics. 2017 Apr 1
• 2 citations
  Myopathy and Less Frequent Complications of Cystinosis
  Jess G. Thoene> ;The Journal of Pediatrics. 2017 Apr 1
• Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis".
  Jess G. Thoene> ;The Journal of Pediatrics. 2017 Apr 1
• 41 citations
  Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference
  Craig B. Langman, Bruce A. Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian P. Midgley, Chris Ottolenghi, Aude Servais, Neveen A. Solima...> ;Kidney International. 2016 Jun 1
• 9 citations
  In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.
  Jess G. Thoene, Thomas J. Goss, Marc Witcher, Jodi Mullet, Francisca N'Kuli, Patrick Van Der Smissen, Pierre J. Courtoy, Si Houn Hahn> ;Molecular Genetics and Metabolism. 2013 May 1
• 37 citations
  Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency
  Shane C. Quinonez, Steven M. Leber, Donna M. Martin, Jess G. Thoene, Jirair K. Bedoyan> ;Pediatric Neurology. 2013 Jan 1
• 18 citations
  The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.
  Christopher P. Larsen, Patrick D. Walker, Jess G. Thoene> ;Molecular Genetics and Metabolism. 2010 Dec 1
• 11 citations
  The redox status of cystinotic fibroblasts
  Victor Vitvitsky, Marc Witcher, Ruma Banerjee, Jess G. Thoene> ;Molecular Genetics and Metabolism. 2010 Apr 1
• 2 citations
  Cysteamine treatment of nephropathic cystinosis.
  Jess G. Thoene> ;Progress in Clinical and Biological Research. 2010 Jan 1
• 6 citations
  Emergency preparedness for newborn screening and genetic services
  Kenneth A. Pass, Jess G. Thoene, Michael S. Watson> ;Genetics in Medicine. 2009 Jun 1
• 25 citations
  A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
  Jess G. Thoene> ;Molecular Genetics and Metabolism. 2007 Dec 1
• 60 citations
  Increased Apoptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results from Cysteinylation of Protein Kinase Cδ
  Margaret A. Park, Vojislav Pejovic, Kathryn G. Kerisit, Sacha Junius, Jess G. Thoene> ;Journal of the American Society of Nephrology. 2006 Nov 1
• 11 citations
  Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita
  Hans C. Andersson, T.C. Narumanchi, Amy Cunningham, Bruce E. Bowdish, Jess G. Thoene> ;Molecular Genetics and Metabolism. 2006 May 1
• 30 citations
  Potential role of apoptosis in development of the cystinotic phenotype
  Margaret A. Park, Jess G. Thoene> ;Pediatric Nephrology. 2005 Apr 1
• 2 citations
  Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
  Jess G. Thoene> ;Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences. 2005 Feb 18
• 3 citations
  Orphan drugs and orphan tests in the USA.
  Jess G. Thoene> ;Community Genetics. 2004 Jan 1
• 5 citations
  High protein diet mimics hypertyrosinemia in newborn infants
  Chulaluck Techakittiroj, Amy Cunningham, Pleasant F. Hooper, Hans C. Andersson, Jess G. Thoene> ;The Journal of Pediatrics. 2005 Feb 1
• 18 citations
  First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
  Robert Kleta, Frederick J. Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M. Guay-Woodford, Erik Harms, Julie R. Ingelfinger, Vera H. Koch, Craig B. Langman, Mary B. Leonard...> ;Pediatric Nephrology. 2005 Jan 27
• 31 citations
  Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes
  Amanda Helip-Wooley, Jess G. Thoene> ;Experimental Cell Research. 2004 Jan 1
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Journal Articles

• 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
• 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
• Enhanced Apoptosis in the Pathophysiology of Cystinosis  
  Thoene J, Current Pediatric Reviews, 1/1/2011
• The Incidence of Atubular Glomeruli in Nephropathic Cystinosis Renal Biopsies  
  Larsen C, Walker P, Thoene J, Molecular Genetics and Metabolism, 1/1/2010
• The Redox Status of Cystinotic Fibroblasts  
  Vitvitsky, V, Witcher, M, Banerjee, R, 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
• Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis  
  Thoene, J., Journal of Peking University (Health Sciences), 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
• Potential Role of Apoptosis in Development of the Cystinosis Phenotype  
  Park M, Thoene J, Pediatric Nephrology, 1/1/2005
• Orphan Drugs and Orphan Tests in the USA  
  Thoene J, Community Genetics, 1/1/2004
• Sucrose-Induced Vacuolation Results in Increased Expression of Cholesterol Biosynthesis and Lysosomal Genes  
  Helip-Wooley A, Thoene JG, Experimental Cell Research, 1/1/2004
• Cystinosis  
  Gahl WA, Thoene JG, Schneider JA, New Eng J Med, 1/1/2002
• Treatment of urea cycle disorders  
  Thoene, J.G., Journal of Pediatrics, 1/1/1999
• 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
• 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
• Lactic Acidosis, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• Orphan Tests, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• Munchausen Syndrome by Proxy, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1997
• 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
• 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
• Cystinosis, Editorial  
  Thoene, JG, Journal of Rare Diseases, 1/1/1996
• Detection and Characterization of a Transport System Mediating Cysteamine Entry into Human Fibroblast Lysosomes  
  Pisoni, R.L., Park, G., Velilla, V., and Thoene, J., J Biol Chem, 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
• Orphan Drugs/Orphan Diseases 
  Chapter: Cysteamine Treatment of Nephropathic Cystinosis 
  Page 125 - 131Thoene, J.Editors: G. Brewer.Alan R. Liss1983
• Internal Medicine. 
  Chapter: Disorders of Amino Acid Metabolism 
  Page 1874 - 1883Thoene, J.Editors: J. Stein, M.D..Little Brown & Co., Boston, MA1983
• 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