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Jess Thoene

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Jess G Thoene; Patrick Van Der Smissen; Marc Witcher; Pierre Courtoy; Thomas Goss; Jodi Mullet; Francisca N'Kuli; Si Houn Hahn
In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.
Shane C Quinonez; Jess G Thoene; Steven M Leber; Donna M Martin; Jirair K Bedoyan
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Christopher P Larsen; Patrick D Walker; Jess G Thoene
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.

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All Publications

2013: Jess G Thoene; Patrick Van Der Smissen; Marc Witcher; Pierre Courtoy; Thomas Goss; Jodi Mullet; Francisca N'Kuli; Si Houn Hahn
In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.
Molecular genetics and metabolism 2013;109(1):77-85.
2013: Shane C Quinonez; Jess G Thoene; Steven M Leber; Donna M Martin; Jirair K Bedoyan
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Pediatric neurology 2013;48(1):67-72.
2010: Christopher P Larsen; Patrick D Walker; Jess G Thoene
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.
Molecular genetics and metabolism 2010;101(4):417-20.
2010: Victor M Vitvitsky; Marc Witcher; Ruma Banerjee; Jess G Thoene
The redox status of cystinotic fibroblasts.
Molecular genetics and metabolism 2010;99(4):384-8.
2009: Kenneth A Pass; Jess G Thoene; Michael S Watson
Emergency preparedness for newborn screening and genetic services.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(6):455-64.
2007: Jess G Thoene
A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.
Molecular genetics and metabolism 2007;92(4):292-8.
2006: Margaret A Park; Vojislav Pejovic; Kathryn G Kerisit; Sacha Junius; Jess G Thoene
Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.
Journal of the American Society of Nephrology : JASN 2006;17(11):3167-75.
2006: Hans Andersson; T C Narumanchi; Amy Cunningham; Bruce Bowdish; Jess G Thoene
Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita.
Molecular genetics and metabolism 2006;88(1):3-6.
2005: 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; Roslyn B Mannon; Minnie M Sarwal; Jerry A Schneider; Flemming Skovby; Barbara C Sonies; Jess G Thoene; Doris A Trauner; William A Gahl
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Pediatric nephrology (Berlin, Germany) 2005;20(4):452-4.
2005: Margaret A Park; Jess G Thoene
Potential role of apoptosis in development of the cystinotic phenotype.
Pediatric nephrology (Berlin, Germany) 2005;20(4):441-6.
2005: Jess G Thoene
Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2005;37(1):8-9.
2005: Chulaluck Techakittiroj; Amy Cunningham; Pleasant Hooper; Hans Andersson; Jess G Thoene
High protein diet mimics hypertyrosinemia in newborn infants.
The Journal of pediatrics 2005;146(2):281-2.
2004: Jess G Thoene
Orphan drugs and orphan tests in the USA.
Community genetics 2004;7(4):169-72.
2004: Amanda Helip-Wooley; Jess G Thoene
Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.
Experimental cell research 2004;292(1):89-100.
2003: Ekaterini T Tsilou; D Thompson; A S Lindblad; George F Reed; Benjamin Rubin; William A Gahl; Jess G Thoene; Monte A Delmonte; Jerry A Schneider; D B Granet; Muriel I Kaiser-Kupfer
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.
The British journal of ophthalmology 2003;87(1):28-31.
2002: Margaret Park; Amanda Helip-Wooley; Jess G Thoene
Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells.
Journal of the American Society of Nephrology : JASN 2002;13(12):2878-87.
2002: William A Gahl; Jess G Thoene; Jerry A Schneider
Cystinosis.
The New England journal of medicine 2002;347(2):111-21.
2002: Amanda Helip-Wooley; Margaret A Park; R M Lemons; Jess G Thoene
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
Molecular genetics and metabolism 2002;75(2):128-33.
2001: Robert Kleta; Yair Anikster; C Lucero; V Shotelersuk; Marjan Huizing; Isa Bernardini; M Park; Jess G Thoene; J Schneider; William A Gahl
CTNS mutations in African American patients with cystinosis.
Molecular genetics and metabolism 2001;74(3):332-7.
2000: Yair Anikster; C Lucero; J Guo; Marjan Huizing; V Shotelersuk; Isa Bernardini; Geraldine A McDowell; Fumino Iwata; Muriel I Kaiser-Kupfer; R Jaffe; Jess G Thoene; Jerry A Schneider; William A Gahl
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Pediatric research 2000;47(1):17-23.
1999: Jess G Thoene; Rosemary Lemons; Yair Anikster; J Mullet; K Paelicke; C Lucero; William A Gahl; J Schneider; S G Shu; H T Campbell
Mutations of CTNS causing intermediate cystinosis.
Molecular genetics and metabolism 1999;67(4):283-93.
1999: Jess G Thoene
Treatment of urea cycle disorders.
The Journal of pediatrics 1999;134(3):255-6.
1998: V Shotelersuk; D Larson; Yair Anikster; Geraldine A McDowell; Rosemary Lemons; Isa Bernardini; J Guo; Jess G Thoene; William A Gahl
CTNS mutations in an American-based population of cystinosis patients.
American journal of human genetics 1998;63(5):1352-62.
1998: Robert A Anderson; Kenneth Feathergill; Risa Kirkpatrick; Lourens J D Zaneveld; K T Coleman; Patricia G Spear; Morris D Cooper; Donald Paul Waller; Jess G Thoene
Characterization of cysteamine as a potential contraceptive anti-HIV agent.
Journal of andrology 1998;19(1):37-49.
1996: Steven E Raper; M Grossman; Daniel J Rader; Jess G Thoene; B J Clark; Daniel M Kolansky; D W Muller; James M Wilson
Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.
Annals of surgery 1996;223(2):116-26.
1995: R L Pisoni; G Y Park; V Q Velilla; Jess G Thoene
Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives.
The Journal of biological chemistry 1995;270(3):1179-84.
1995: J A Schneider; K F Clark; A A Greene; J S Reisch; T C Markello; William A Gahl; Jess G Thoene; P K Noonan; K A Berry
Recent advances in the treatment of cystinosis.
Journal of inherited metabolic disease 1995;18(4):387-97.
1995: Jess G Thoene
Cystinosis.
Journal of inherited metabolic disease 1995;18(4):380-6.
1994: Jess G Thoene
Current status of orphan disease drug development.
Current opinion in pediatrics 1994;6(2):209-12.
1992: J C Collins; D N Buchanan; Jess G Thoene; R P Erickson; S S Brooks; S Gluecksohn-Waelsch
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
Biochemical and biophysical research communications 1992;187(1):340-6.
1992: James M Wilson; M Grossman; Steven E Raper; James R Baker Jr; Roger S Newton; Jess G Thoene
Ex vivo gene therapy of familial hypercholesterolemia.
Human gene therapy 1992;3(2):179-222.
1992: C de Céspedes; Jess G Thoene; K Lowler; H N Christensen
Leucine and tissue distribution of bulky and small neutral amino acids in rats: dissociation between transport and insulin-mediated effects.
Journal of inherited metabolic disease 1992;15(1):145-54.
1992: R L Pisoni; Rosemary Lemons; K M Paelicke; Jess G Thoene
Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts.
Somatic cell and molecular genetics 1992;18(1):1-6.
1991: R L Pisoni; Jess G Thoene
The transport systems of mammalian lysosomes.
Biochimica et biophysica acta 1991;1071(4):351-73.
1991: Rosemary Lemons; Jess G Thoene
Mediated calcium transport by isolated human fibroblast lysosomes.
The Journal of biological chemistry 1991;266(22):14378-82.
1991: Jess G Thoene
Curing the Orphan Drug Act.
Science (New York, N.Y.) 1991;251(4998):1158-9.
1990: D N Buchanan; JT Muenzer; Jess G Thoene
Positive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias.
Journal of chromatography 1990;534():1-11.
1990: William A Gahl; J A Schneider; J D Schulman; Jess G Thoene; G F Reed
Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine.
Pediatric nephrology (Berlin, Germany) 1990;4(2):129-35.
1990: R L Pisoni; T L Acker; K M Lisowski; Rosemary Lemons; Jess G Thoene
A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis.
The Journal of cell biology 1990;110(2):327-35.
1989: R L Pisoni; K M Lisowski; Rosemary Lemons; Jess G Thoene
Utilization of mercaptoethylgluconamide for depleting human cystinotic fibroblasts of their accumulated lysosomal cystine.
Pediatric research 1989;26(1):73-6.
1989: R L Pisoni; Jess G Thoene
Detection and characterization of a nucleoside transport system in human fibroblast lysosomes.
The Journal of biological chemistry 1989;264(9):4850-6.
1989: C de Cespedes; Jess G Thoene; K Lowler; H N Christensen
Evidence for inhibition of exodus of small neutral amino acids from non-brain tissues in hyperphenylalaninaemic rats.
Journal of inherited metabolic disease 1989;12(2):166-80.
1988: William A Gahl; Jess G Thoene; J A Schneider; S O'Regan; M I Kaiser-Kupfer; T Kuwabara
NIH conference. Cystinosis: progress in a prototypic disease.
Annals of internal medicine 1988;109(7):557-69.
1988: Rosemary Lemons; S Forster; Jess G Thoene
Protein microinjection by protease permeabilization of fibroblasts.
Analytical biochemistry 1988;172(1):219-27.
1988: L A Smolin; K F Clark; Jess G Thoene; William A Gahl; J A Schneider
A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leukocyte free cystine in nephropathic cystinosis.
Pediatric research 1988;23(6):616-20.
1987: R L Pisoni; Jess G Thoene; Rosemary Lemons; H N Christensen
Important differences in cationic amino acid transport by lysosomal system c and system y+ of the human fibroblast.
The Journal of biological chemistry 1987;262(31):15011-8.
1987: Carl T Wittwer; C P Graves; M A Peterson; Erik M Jorgensen; D E Wilson; Jess G Thoene; B W Wyse; C T Windham; R G Hansen
Pantethine lipomodulation: evidence for cysteamine mediation in vitro and in vivo.
Atherosclerosis 1987;68(1-2):41-9.
1987: R L Pisoni; K S Flickinger; Jess G Thoene; H N Christensen
Characterization of carrier-mediated transport systems for small neutral amino acids in human fibroblast lysosomes.
The Journal of biological chemistry 1987;262(13):6010-7.
1987: William A Gahl; G F Reed; Jess G Thoene; J D Schulman; W B Rizzo; A J Jonas; D W Denman; J J Schlesselman; B J Corden; J A Schneider
Cysteamine therapy for children with nephropathic cystinosis.
The New England journal of medicine 1987;316(16):971-7.
1987: M Dasouki; D Buchanan; N Mercer; K M Gibson; Jess G Thoene
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
Journal of inherited metabolic disease 1987;10(2):142-6.
1986: Rosemary Lemons; R L Pisoni; H N Christensen; Jess G Thoene
Elevated temperature produces cystine depletion in cystinotic fibroblasts.
Biochimica et biophysica acta 1986;884(3):429-34.
1986: William A Gahl; J A Schneider; Jess G Thoene; R Chesney
Course of nephropathic cystinosis after age 10 years.
The Journal of pediatrics 1986;109(4):605-8.
1986: D N Buchanan; Jess G Thoene
Early identification of isovaleric aciduria using photodiode array detection for liquid chromatographic profiling of urinary carboxylic acids.
Biomedical chromatography : BMC 1986;1(1):38-40.
1986: N McKay; R Petrova-Benedict; Jess G Thoene; B Bergen; W Wilson; B Robinson
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
European journal of pediatrics 1986;144(5):445-50.
1986: D N Buchanan; Jess G Thoene
Photodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria.
Clinical chemistry 1986;32(1 Pt 1):169-71.
1985: D N Buchanan; Jess G Thoene
Photodiode array ultraviolet spectrophotometric profiling of carboxylic acids in physiological fluids.
Journal of chromatography 1985;344():23-32.
1985: C B Langman; E S Moore; Jess G Thoene; J A Schneider
Renal failure in a sibship with late-onset cystinosis.
The Journal of pediatrics 1985;107(5):755-6.
1985: Carl T Wittwer; William A Gahl; J D Butler; M Zatz; Jess G Thoene
Metabolism of pantethine in cystinosis.
The Journal of clinical investigation 1985;76(4):1665-72.
1985: R L Pisoni; Jess G Thoene; H N Christensen
Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?
The Journal of biological chemistry 1985;260(8):4791-8.
1985: Jess G Thoene; S Forster; J B Lloyd
The role of pinocytosis in the cellular uptake of an amino acid.
Biochemical and biophysical research communications 1985;127(3):733-8.
1985: Jess G Thoene; Rosemary Lemons; S Boskovich; K Borysko
Inhibitors of protein synthesis also inhibit lysosomal proteolysis. Studies using cystinotic fibroblasts.
The Journal of clinical investigation 1985;75(2):370-6.
1985: D N Buchanan; Jess G Thoene
Volatile carboxylic acid profiling in physiological fluids: direct injection into a gas chromatograph/mass spectrometer.
Clinica chimica acta; international journal of clinical chemistry 1985;145(2):183-91.
1985: Jess G Thoene
Therapy of cystinosis.
Progress in clinical and biological research 1985;197():157-62.
1985: Raymond J Hutchinson; K Bunnell; Jess G Thoene
Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids.
The Journal of pediatrics 1985;106(1):62-5.
1985: Steven M Donn; Jess G Thoene
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
Journal of inherited metabolic disease 1985;8(1):18-20.
1984: S T Test; M B Lampert; P J Ossanna; Jess G Thoene; Stephen J Weiss
Generation of nitrogen-chlorine oxidants by human phagocytes.
The Journal of clinical investigation 1984;74(4):1341-9.
1984: N Khalidi; J R Wesley; Jess G Thoene; W M Whitehouse; W L Baker
Biotin deficiency in a patient with short bowel syndrome during home parenteral nutrition.
JPEN. Journal of parenteral and enteral nutrition 1984;8(3):311-4.
1984: O L Pellett; M L Smith; Jess G Thoene; J A Schneider; A J Jonas
Renal cell culture using autopsy material from children with cystinosis.
In vitro 1984;20(1):53-8.
1983: William A Gahl; J D Schulman; Jess G Thoene; J Schneider
Hepatotoxicity of cysteamine?
The Journal of pediatrics 1983;103(6):1008-9.
1983: D N Buchanan; F Bonasso; Jess G Thoene
Volatile carboxylic acid profiling in physiological fluids.
Journal of chromatography 1983;278(1):133-8.
1983: Jess G Thoene; B Wolf
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Lancet 1983;2(8346):398.
1983: Jess G Thoene; Rosemary Lemons; H Baker
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
The New England journal of medicine 1983;308(11):639-42.
1983: Jess G Thoene
Cysteamine treatment of nephropathic cystinosis.
Progress in clinical and biological research 1983;127():125-31.
1982: Jess G Thoene; Rosemary Lemons
Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine.
The Biochemical journal 1982;208(3):823-30.
1982: R S Sanghvi; Rosemary Lemons; H Baker; Jess G Thoene
A simple method for determination of plasma and urinary biotin.
Clinica chimica acta; international journal of clinical chemistry 1982;124(1):85-90.
1982: D N Buchanan; Jess G Thoene
Dual-column high-performance liquid chromatographic urinary organic acid profiling.
Analytical biochemistry 1982;124(1):108-16.
1981: Jess G Thoene; H Baker; M Yoshino; L Sweetman
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
The New England journal of medicine 1981;304(14):817-20.
1981: Jess G Thoene; J Higgins; I Krieger; R Schmickel; L Weiss
Genetic screening for mental retardation in Michigan.
American journal of mental deficiency 1981;85(4):335-40.
1981: B J Corden; J D Schulman; J A Schneider; Jess G Thoene
Adverse reactions to oral cysteamine use in nephropathic cystinosis.
Developmental pharmacology and therapeutics 1981;3(1):25-30.
1980: Jess G Thoene; Rosemary Lemons
Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin.
Pediatric research 1980;14(6):785-7.
1980: Jess G Thoene; Rosemary Lemons
Cystine depletion of cystinotic tissues by phosphocysteamine (WR638).
The Journal of pediatrics 1980;96(6):1043-4.
1979: Steven M Donn; Richard D Swartz; Jess G Thoene
Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant.
The Journal of pediatrics 1979;95(1):67-70.
1979: J A Schneider; J J Schlesselman; S A Mendoza; S Orloff; Jess G Thoene; W A Kroll; A D Godfrey; J D Schulman
Ineffectiveness of ascorbic acid therapy in nephropathic cystinosis.
The New England journal of medicine 1979;300(14):756-9.
1978: J Leibowitz; Jess G Thoene; E Spector; W Nyhan
Citrullinemia.
Virchows Archiv. A, Pathological anatomy and histology 1978;377(3):249-58.
1978: Jess G Thoene; L Sweetman; T Shafai; N Kennaway; J Fellman; W Nyhan
Tyrosinemia associated with perinatal infection with cytomegalovirus.
The Journal of pediatrics 1978;92(1):108-12.
1977: Jess G Thoene; Robert Glen Oshima; D G Ritchie; J A Schneider
Cystinotic fibroblasts accumulate cystine from intracellular protein degradation.
Proceedings of the National Academy of Sciences of the United States of America 1977;74(10):4505-7.
1977: Jess G Thoene; M Batshaw; E Spector; S Kulovich; S Brusilow; M Walser; W Nyhan
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
The Journal of pediatrics 1977;90(2):218-24.
1977: Jess G Thoene; Robert Glen Oshima; J C Crawhall; J A Schneider
Cystine depletion of cystinotic cells by aminothiols.
Proceedings of the Royal Society of Medicine 1977;70 Suppl 3():37-40.
1976: Robert Glen Oshima; W J Rhead; Jess G Thoene; J A Schneider
Cystine metabolism in human fibroblasts. Comparison of normal, cystinotic, and gamma-glutamylcysteine synethetase-deficient cells.
The Journal of biological chemistry 1976;251(14):4287-93.
1976: Jess G Thoene; Robert Glen Oshima; J C Crawhall; D L Olson; J A Schneider
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.
The Journal of clinical investigation 1976;58(1):180-9.
1967: Jess G Thoene; J L Talbert; S Subramanian; G B Odell
Use of the hand refractometer in determining total serum proteins of infants and children.
The Journal of pediatrics 1967;71(3):413-7.