Genomes and Genes
Summary: Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed)
Publications197 found, 100 shown here
- 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
- Cysteamine, the molecule used to treat cystinosis, potentiates the antimalarial efficacy of artemisininGundula Min-Oo
Department of Biochemistry, Complex Traits Program, McGill University, 3649 Sir William Osler, Room 366, Montreal, QC H3G 0B1, Canada
Antimicrob Agents Chemother 54:3262-70. 2010..We report that cysteamine (Cys), the aminothiol used to treat nephropathic cystinosis in humans, strongly potentiates the efficacy of artemisinin against the Plasmodium parasite in vivo...
- Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adultsAlbane Brodin-Sartorius
Department of Nephrology, Necker Enfants Malades Hospital, Paris, France
Kidney Int 81:179-89. 2012Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine...
- Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapyAdrien Jézégou
Universite Paris Descartes, Sorbonne Paris Cité, Centre National de Recherche Scientifique, Unité Mixte de Recherche 8192, Centre Universitaire des Saints Peres, F 75006 Paris, France
Proc Natl Acad Sci U S A 109:E3434-43. 2012Cystinosin, the lysosomal cystine exporter defective in cystinosis, is the founding member of a family of heptahelical membrane proteins related to bacteriorhodopsin and characterized by a duplicated motif termed the PQ loop...
- Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotypingAude Servais
Department of Nephrology, Necker Hospital, 149 rue de Sevres, 75015 Paris, France
Clin J Am Soc Nephrol 3:27-35. 2008b>Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane...
- Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literatureEkaterini Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Surv Ophthalmol 52:97-105. 2007b>Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues...
- Cystinosis. A clinicopathological conference. "From toddlers to twenties and beyond" Adult-Paediatric Nephrology Interface Meeting, Manchester 2001Rachel Middleton
Department of Renal Medicine, Hope Hospital, Stott Lane, Salford, Manchester M6 8HD, U K
Nephrol Dial Transplant 18:2492-5. 2003
- Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisStephanie Cherqui
INSERM U423, Hopital Necker Enfants Malades, Paris, France
Mol Cell Biol 22:7622-32. 2002b>Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine...
- Mitochondrial autophagy promotes cellular injury in nephropathic cystinosisPoonam Sansanwal
Department of Pediatrics, G306, 300 Pasteur Drive, Stanford, CA 94304, USA
J Am Soc Nephrol 21:272-83. 2010The molecular and cellular mechanisms underlying nephropathic cystinosis, which exhibits generalized proximal tubular dysfunction and progressive renal failure, remain largely unknown...
- Formulation and in vitro evaluation of cysteamine hydrochloride viscous solutions for the treatment of corneal cystinosisSibel Bozdag
Department of Pharmaceutical Technology, Hacettepe University, Sihhiye, Ankara, Turkey
Eur J Pharm Biopharm 70:260-9. 2008..2% and 85.3% of CH were released from the viscous solutions containing 1.5% and 1% HPMC, respectively, in 8h. No irritation was observed when the viscous solutions were tested on rabbit and human eyes...
- Pharmacological treatment of nephropathic cystinosis with cysteamineRobert Kleta
NHGRI, Building 10, Room 10C 107, MSC 1851, 10 Center Drive, Bethesda, MD 20892, USA
Expert Opin Pharmacother 5:2255-62. 2004b>Cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS...
- Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosisW A Gahl
Science 217:1263-5. 1982The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was found to be deficient...
- Early development of the renal lesions in infantile cystinosisC P Mahoney
Division of Pediatric Endocrinology, University of Washington Medical School, Children s Hospital and Regional Medical Center, Seattle 98105, USA
Pediatr Nephrol 15:50-6. 2000To identify the early renal lesions in cystinosis, including whether the "swan neck" deformity of the proximal tubule is a congenital or an acquired lesion, we performed renal function tests and kidney biopsies on two cystinotic infants, ..
- Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cellsMartijn J Wilmer
Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, The Netherlands
Biochim Biophys Acta 1812:643-51. 2011Recent evidence implies that impaired metabolism of glutathione has a role in the pathogenesis of nephropathic cystinosis. This recessive inherited disorder is characterized by lysosomal cystine accumulation and results in renal Fanconi ..
- Abnormal mitochondrial autophagy in nephropathic cystinosisPoonam Sansanwal
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA
Autophagy 6:971-3. 2010b>Cystinosis, which is characterized by lysosomal accumulation of cystine in many tissues, was the first known storage disorder caused by defective metabolite export from the lysosome...
- Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)Y Anikster
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Genet Metab 66:111-6. 1999The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany...
- Cystinosis: from gene to diseaseVasiliki Kalatzis
INSERM U423, Département de génétique, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
Nephrol Dial Transplant 17:1883-6. 2002
- Long-term treatment of cystinosis in children with twice-daily cysteamineRanjan Dohil
Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA
J Pediatr 156:823-7. 2010b>Cystinosis causes renal and other organ failure. Treatment with 6-hourly cysteamine bitartrate (Cystagon, Mylan, Morgantown, West Virginia) reduces intracellular cystine and the rate of organ deterioration...
- Cystinosis: antibodies and healthy bodiesRobert Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Am Soc Nephrol 13:2189-91. 2002
- 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. 2007The role of lysosomal cystine in development of the phenotype in cystinosis is problematic, in that the cystine is effectively isolated from the rest of cellular metabolism...
- Long-term treatment with growth hormone in short children with nephropathic cystinosisE Wühl
Renal Units, The Department of Pediatrics, University Hospital of Heidelberg, 69120 Heidelberg, Germany
J Pediatr 138:880-7. 2001The objective was to assess the efficacy and safety of growth hormone (GH) treatment in severely growth retarded children with nephropathic cystinosis during conservative treatment and during renal replacement therapy.
- Bone marrow findings in hereditary cystinosis with renal failureJ P Quinn
Department of Haematology, Beaumont Hospital, Dublin, Republic of Ireland
Am J Hematol 76:79. 2004
- The incidence of atubular glomeruli in nephropathic cystinosis renal biopsiesChristopher P Larsen
Nephropathology Associates, Little Rock, AR 72211, USA
Mol Genet Metab 101:417-20. 2010Nephropathic cystinosis results from lysosomal cystine storage and, if untreated with cysteamine, results in end-stage renal disease by 10 years of age...
- High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluationL Olcay
Section of Paediatric Haematology, Ankara Oncology Hospital, Demetevler, 06200 Ankara, Turkey
J Clin Pathol 58:939-45. 2005To investigate the morphology and function of platelets in nephropathic cystinosis (NC).
- Can cystinosis cause coronary artery dilatation?S Olgar
Department of Pediatric Cardiology, Faculty of Medicine, Istanbul University, Istanbul 34200, Turkey
Pediatr Cardiol 27:263-8. 2006In children, dilated coronary arteries are usually caused by Kawasaki's disease. We report four children with dilated coronary arteries and nephropathic cystinosis.
- Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosisPoonam Sansanwal
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA
J Inherit Metab Dis 33:775-86. 2010Nephropathic cystinosis is a rare, inherited metabolic disease caused by functional defects of cystinosin associated with mutations in the CTNS gene...
- 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. 2006b>Cystinosis is a rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. How lysosomal cystine causes the lethal nephropathic phenotype is unknown...
- The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamineRanjan Dohil
Department of Pediatrics, University of California San Diego, UCSD Medical Center, Hillcrest, 200 West Arbor Drive, San Diego, CA 92103 8450, USA
J Pediatr 143:224-30. 2003Cysteamine prevents organ damage in children with cystinosis, but may cause gastrointestinal (GI) symptoms. In this study we evaluated the nature of GI disease, and the value of omeprazole in controlling GI symptoms in these children.
- Nodular regenerative hyperplasia and severe portal hypertension in cystinosisKevin O'Brien
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Clin Gastroenterol Hepatol 4:387-94. 2006b>Cystinosis is a rare autosomal-recessive disorder characterized by the intralysosomal accumulation of cystine, which is responsible for widespread tissue destruction...
- Renal phenotype of the cystinosis mouse model is dependent upon genetic backgroundNathalie Nevo
INSERM, U574, Hopital Necker Enfants Malades, Paris, France
Nephrol Dial Transplant 25:1059-66. 2010b>Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine transporter. The most severe and frequent form is characterized by a proximal tubulopathy that appears around 6 to 12 months of age...
- Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean feverMichael Haase
Department of Nephrology, Charite University Medicine, Berlin Germany
J Nephrol 19:677-81. 2006..pregnancy of a dialysis patient with underlying familial Mediterranean fever, and of a dialysis patient with cystinosis. We treated all patients with an intensified hemodiafiltration protocol, increased erythropoietin dosages, a ..
- Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cellsMargaret Park
Hayward Genetics Center, Tulane University Health Sciences Center, 1430 Tulane Avenue, New Orleans, LA 70112, USA
J Am Soc Nephrol 13:2878-87. 2002Nephropathic cystinosis is a lethal disorder of lysosomal cystine storage due to defective lysosomal cystine transport...
- Successful treatment of the murine model of cystinosis using bone marrow cell transplantationKimberly Syres
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA, USA
Blood 114:2542-52. 2009b>Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS encoding the lysosomal cystine transporter, cystinosin...
- 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..b>Cystinosis is an example of this phenomenon...
- Reduced phosphate transport in the renal proximal tubule cells in cystinosis is due to decreased expression of transporters rather than an energy defectMary L Taub
Department of Biochemistry, School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14214, USA
Biochem Biophys Res Commun 407:355-9. 2011Nephropathic cystinosis is an autosomal recessive disorder caused by mutations in the CTNS gene , which encodes for a transporter (cystinosin) responsible for cystine efflux from lysosomes...
- Mutations of CTNS causing intermediate cystinosisJ Thoene
Department of Pediatrics, University of Michigan, Ann Arbor 48109 0408, USA
Mol Genet Metab 67:283-93. 1999Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described...
- Twice-daily cysteamine bitartrate therapy for children with cystinosisRanjan Dohil
Department of Pediatrics, University of California San Diego, La Jolla, CA 92103 8450, USA
J Pediatr 156:71-75.e1-3. 2010b>Cystinosis causes renal and other organ failure. Regular 6-hourly cysteamine bitartrate (Cystagon; Mylan, Morgantown, West Virginia) reduces intracellular cystine and the rate of organ deterioration...
- Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantationMasako Ueda
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 1851, USA
Clin J Am Soc Nephrol 1:555-62. 2006b>Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin...
- Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosisElena N Levtchenko
Department of Paediatric Nephrology, Radboud University Nijmegen Medical Centre, P O 9101, 6500 HB, Nijmegen, The Netherlands
Pediatr Nephrol 21:110-3. 2006b>Cystinosis is an autosomal recessive disorder, caused by mutations in the lysosomal cystine carrier cystinosin, encoded by the CTNS gene...
- A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leukocyte free cystine in nephropathic cystinosisL A Smolin
Department of Pediatrics, School of Medicine, University of California, San Diego, La Jolla 92093
Pediatr Res 23:616-20. 1988Cysteamine (beta-mercaptoethylamine, MEA) is currently used to treat children with nephropathic cystinosis. In this study MEA was compared to phosphocysteamine (MEAP), a phosphorothioester that tastes and smells better than MEA, with ..
- Gene transfer may be preventive but not curative for a lysosomal transport disorderClaire Hippert
Institut de Genetique Moleculaire de Montpellier, CNRS, Montpellier, France
Mol Ther 16:1372-81. 2008b>Cystinosis belongs to a growing class of lysosomal storage disorders (LSDs) caused by defective transmembrane proteins. The causative CTNS gene encodes the lysosomal cystine transporter, cystinosin...
- Polyuria and proteinuria in cystinosis have no impact on renal transplantation. A report of the North American Pediatric Renal Transplant Cooperative StudyV Langlois
Department of Pediatrics, The Montreal Children s Hospital, Quebec, Canada
Pediatr Nephrol 15:7-10. 2000..of this study were to characterize the changes in urine volume and protein excretion at various stages of cystinosis, determine whether there is serologic evidence of hypercoagulability, and review the clinical experience in ..
- Clinicopathological features of ocular cystinosisMehmet Selim Kocabora
Department of Ophthalmology, Vakif Gureba Education and Research Hospital, Istanbul, Turkey
Clin Experiment Ophthalmol 36:778-81. 2008..Ocular cystinosis was diagnosed upon observation of typical crystals and lack of systemic involvement...
- Oral motor dysfunction and feeding difficulties in nephropathic cystinosisD A Trauner
Department of Neurosciences, UCSD School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0935, USA
Pediatr Neurol 24:365-8. 2001Nephropathic cystinosis is a genetic disorder in which the amino acid cystine accumulates in lysosomes, resulting in multiorgan dysfunction...
- Fertility status in male cystinosis patients treated with cysteamineMartine T P Besouw
Department of Pediatrics Pediatric Nephrology, University Hospital Gasthuisberg, Leuven, Belgium
Fertil Steril 93:1880-3. 2010To analyze the fertility status in adult, male cystinosis patients treated with cysteamine. Cystinosis is an autosomal recessive disease leading to intralysosomal cystine accumulation...
- Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patientsEric B Belldina
Department of Basic Pharmaceutical Sciences, West Virginia University, Morgantown, WV, USA
Br J Clin Pharmacol 56:520-5. 2003Cysteamine is used to reduce tissue cystine content in patients suffering from nephropathic cystinosis. The objectives of the current study were to investigate pharmacokinetics and pharmacodynamics of cysteamine bitartrate in children and ..
- Nephropathic cystinosis: late complications of a multisystemic diseaseGalina Nesterova
Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
Pediatr Nephrol 23:863-78. 2008b>Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births...
- A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosisM Town
Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy s Hospital, London, UK
Nat Genet 18:319-24. 1998Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The cystinosis gene has been mapped to chromosome 17p13...
- Esomeprazole therapy for gastric acid hypersecretion in children with cystinosisRanjan Dohil
UCSD Medical Center, San Diego, CA 92103 8450, USA
Pediatr Nephrol 20:1786-93. 2005Oral cysteamine therapy prevents natural disease progression in children with cystinosis, but it may cause severe gastrointestinal (GI) symptoms through gastric acid-hypersecretion...
- The ocular anomalies in a cystinosis animal model mimic disease pathogenesisVasiliki Kalatzis
Institut de Genetique Moleculaire de Montpellier, France
Pediatr Res 62:156-62. 2007b>Cystinosis is a lysosomal storage disorder characterized by abnormal accumulation of cystine, which forms crystals at high concentrations. The causative gene CTNS encodes cystinosin, the lysosomal cystine transporter...
- Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosinVasiliki Kalatzis
Inserm U574, Hopital Necker Enfants Malades, Paris, France
Hum Mol Genet 13:1361-71. 2004b>Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile, juvenile and ocular cystinosis) have been described according to the age of onset and severity of the symptoms...
- Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosisAmy M Spilkin
Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, California 92093 0935, USA
Am J Med Genet B Neuropsychiatr Genet 144:444-7. 2007b>Cystinosis is a recessive genetic metabolic disorder in which the amino acid cystine accumulates in various organs of the body. Previous studies have demonstrated visuospatial dysfunction in children and adults with this disorder...
- Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapyBarbara C Sonies
Oral Motor Function Section, Physical Disabilities Branch, Rehabilitation Medicine Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
Medicine (Baltimore) 84:137-46. 2005Nephropathic cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene that codes for a cystine transporter in the lysosomal membrane...
- Confocal microscopy of the cornea in nephropathic cystinosisA H Alsuhaibani
Br J Ophthalmol 89:1530-1. 2005
- Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapyEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 113:1002-9. 2006b>Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. Treatment involves intracellular cystine depletion with oral cysteamine...
- Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopyRui Tavares
Ophthalmology Department, Coimbra University Hospital, Coimbra, Portugal
Cornea 28:938-40. 2009..1136% (new formulation, now stable at room temperature without the need for refrigeration for up to 2 months) for the treatment of cystine crystals in the cornea using slit lamp biomicroscopy and confocal microscopy...
- Development of Fanconi syndrome during infancy in a patient with cystinosisElena Levtchenko
Acta Paediatr 95:379-80. 2006
- Oral carnitine therapy in children with cystinosis and renal Fanconi syndromeW A Gahl
Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
J Clin Invest 81:549-60. 198811 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome...
- Early oral cysteamine therapy for nephropathic cystinosisWilliam A Gahl
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, MSC 1851 Building 10, Room 10C 103, 10 Center Drive, Bethesda, Maryland 20892 1851, USA
Eur J Pediatr 162:S38-41. 2003Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates due to impaired transport out of lysosomes...
- Visual and verbal learning in a genetic metabolic disorderAmy M Spilkin
Department of Neurosciences, University of California, San Diego, School of Medicine, La Jolla, CA 92093 0935, United States
Neuropsychologia 47:1883-92. 2009Visual and verbal learning in a genetic metabolic disorder (cystinosis) were examined in the following three studies...
- Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literatureAysun Caltik
Dr Sami Ulus Children Hospital, Pediatric Nephrology Department, Altindag, Ankara, Turkey
Ren Fail 32:277-80. 2010We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis...
- A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosisE T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Br J Ophthalmol 87:28-31. 2003To evaluate the safety and efficacy of a new topical cysteamine formulation, stable at room temperature, for the treatment of corneal cystine crystals in cystinosis.
- Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL geneMirjam M C Wamelink
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
Hum Mutat 29:532-6. 2008The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL)...
- Gel formulations for treatment of the ophthalmic complications in cystinosisBarbara Buchan
School of Pharmacy and Life Sciences, The Robert Gordon University, Schoolhill, Aberdeen, UK
Int J Pharm 392:192-7. 2010Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all organs. It is treated by regular administration of the aminothiol, cysteamine...
- Kidney preservation by bone marrow cell transplantation in hereditary nephropathyBrian A Yeagy
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
Kidney Int 79:1198-206. 2011..stem cells could generate renal cells and lead to the preservation of kidney function in a mouse model for cystinosis (Ctns(-/-)) that develops chronic kidney injury, 4 months post transplantation...
- Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedropsW A Gahl
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
Mol Genet Metab 71:100-20. 2000Although renal disease is the most prominent feature of the lysosomal storage disease cystinosis, corneal cystine crystal formation remains a major complication, leading to photophobia, corneal erosions, and keratopathies...
- Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapyWilliam A Gahl
National Human Genome Research Institute and Intramural Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Ann Intern Med 147:242-50. 2007The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated.
- CTNS mutations in African American patients with cystinosisR Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
Mol Genet Metab 74:332-7. 2001b>Cystinosis, an autosomal recessive lysosomal storage disorder, is rarely diagnosed in African Americans. The disease results from mutations in the gene CTNS; at least 55 such mutations have been reported...
- The origin of halitosis in cystinotic patients due to cysteamine treatmentMartine Besouw
Department of Pediatric Nephrology, Radboud University Nijmegen Medical Centre, Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Mol Genet Metab 91:228-33. 2007b>Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation of cystine. Cysteamine removes cystine from the lysosome and slows down the progression of the disease...
- Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosinM Attard
Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, UK
Hum Mol Genet 8:2507-14. 1999Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction...
- Cystinosis: practical tools for diagnosis and treatmentMartijn J Wilmer
Laboratory of Pediatrics, Katholieke Universiteit Leuven, Leuven, Belgium
Pediatr Nephrol 26:205-15. 2011b>Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage...
- Nephropathic cystinosis in children: An overlooked diseaseNeveen A Soliman
Center of Pediatric Nephrology and Transplantation, Cairo University, Egypt
Saudi J Kidney Dis Transpl 20:436-42. 2009Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine...
- In vivo confocal microscopy of the cornea in nephropathic cystinosisChristina N Grupcheva
Discipline of Ophthalmology, University of Auckland, Private Bag 92019, Auckland, New Zealand
Arch Ophthalmol 120:1742-5. 2002
- Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cellsMarie Jackson
Enzyme Laboratory, Department of Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, London, UK
Prenat Diagn 25:1045-7. 2005Prenatal diagnosis of cystinosis has been available for over 30 years by the incubation of cultured amniotic cells, intact chorionic villi and cultured chorionic cells with [35S]-cystine followed by thin layer chromatography and visual ..
- In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosisAntoine Labbe
Department of Ophthalmology III, Quinze Vingts National Ophthalmology Hospital, 28 rue de Charenton, Paris, France
Ophthalmology 116:870-6. 2009To analyze the corneas of patients with nephropathic cystinosis using in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT).
- Elevated oxidized glutathione in cystinotic proximal tubular epithelial cellsMartijn J G Wilmer
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
Biochem Biophys Res Commun 337:610-4. 2005b>Cystinosis, the most frequent cause of inborn Fanconi syndrome, is characterized by the lysosomal cystine accumulation, caused by mutations in the CTNS gene...
- Long-term outcome of nephropathic cystinosis: a 20-year single-center experienceMarcella Greco
Department of Nephrology and Urology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
Pediatr Nephrol 25:2459-67. 2010Nephropathic cystinosis (NC) is a severe disease that is complicated by early-onset chronic renal failure (CRF) and other complications related to cystine deposition in tissue...
- In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosisAdrian T Fung
Clin Experiment Ophthalmol 35:292-3. 2007The clinicopathological and in vivo confocal microscopic characteristics of the corneas from a patient with infantile cystinosis is reported. Crystals were demonstrated in the epithelium and stroma of this patient.
- Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosisMartijn J Wilmer
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Kidney Dis 51:893-903. 2008Nephropathic cystinosis is the most common cause of inherited renal Fanconi syndrome, caused by mutations in lysosomal cystine carrier cystinosin that result in lysosomal cystine accumulation throughout the body...
- Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndromeGuido F Laube
Nephrourology Unit, Institute of Child Health and University College London Medical School, 30 Guilford Street, London, WC1 N 1EH, UK
Pediatr Nephrol 20:136-40. 2005The renal Fanconi syndrome (FS) is characterised by generalised proximal tubular dysfunction. Cystinosis is the most common genetic cause of the FS and results from defective function of cystinosin, due to mutations of the CTNS gene ..
- Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouseJennifer Simpson
Department of Biochemistry, Jawaharlal Nehru Medical College, Maharashtra, India
Mol Vis 17:2212-20. 2011..study was to assess the ability of quantitative in vivo confocal microscopy to characterize the natural history and detect changes in crystal volume in corneas from a novel animal model of cystinosis, the cystinosin (Ctns(-/-)) mouse.
- Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilationM A Edens
University Department of Human Movement Sciences, University Medical Center Groningen, Groningen, The Netherlands
Clin Nephrol 66:306-9. 2006b>Cystinosis is a rare metabolic disorder characterized by lysosomal cystine accumulation leading to multi-organ damage, with kidneys being clinically first affected...
- Infantile nephropathic cystinosisM B Stokes
Department of Pathology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
Kidney Int 73:782-6. 2008
- Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometryA Chabli
AP HP, Hopital Necker Enfants Malades, Service de Biochimie B, Universite Paris V, 75015 Paris, France
Clin Biochem 40:692-8. 2007b>Cystinosis is a rare autosomal recessive disorder characterized by an accumulation of intralysosomal cystine due to a defect in cystine transport across the lysosomal membrane...
- Osteopenia and fractures in cystinotic children post renal transplantationPaul James A Zimakas
Department of Pediatric Endocrinology, Montreal Children s Hospital, McGill University Health Center, Montreal, Quebec, Canada
Pediatr Nephrol 18:384-90. 2003Many of the end-organ effects of cystinosis are known to be risk factors for osteopenia; these include deposition of cystine crystals in bone, hypothyroidism, diabetes mellitus, primary hypogonadism, urinary phosphate wasting, and chronic ..
- CTNS mutations in patients with cystinosisY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1830, USA
Hum Mutat 14:454-8. 1999b>Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS...
- A new mutation in two siblings with cystinosis presenting with Bartter syndromeMarco Pennesi
Department of Pediatrics, IRCCS Burlo Garofalo, University of Trieste, Via dell Istria 65 1, Trieste, Italy
Pediatr Nephrol 20:217-9. 2005Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment...
- Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteaminePascal Dureau
Service d Ophtalmologie, Hopital Necker Enfants Malades, Paris, France
J Pediatr Ophthalmol Strabismus 40:142-6. 2003Nephropathic cystinosis is characterized by an accumulation of cystine crystals within most body tissues...
- The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionJ W Touchman
NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
Genome Res 10:165-73. 2000Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes...
- Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosisEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, Division of Biometry and Epidemiology, National Eye Institute, National Institutes of Health, 10 Center Drive, Bldg 10, Rm 10N226, Bethesda, MD 20892, U S A
Cornea 21:173-6. 2002As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood...
- 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
- ACE inhibitorenalapril diminishes albuminuria in patients with cystinosisE Levtchenko
Department of Paediatric Nephrology, University Medical Centre, Nijmegen, The Netherlands
Clin Nephrol 60:386-9. 2003b>Cystinosis, a rare autosomal recessive disease, manifests with renal Fanconi syndrome during the first year of life. Interstitial damage is a major cause of renal failure in patients with cystinosis...
- Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapyElena Levtchenko
Department of Paediatric Nephrology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Clin Chem 50:1686-8. 2004
- The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motifS Cherqui
INSERM U423, Rein en Développement et Néphropathies Hereditaires, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
J Biol Chem 276:13314-21. 2001b>Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine...
- Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in BrittanyV Kalatzis
INSERM U423, , , 149 rue de Sevres, 75015 Paris, France
J Am Soc Nephrol 12:2170-4. 2001b>Cystinosis is an autosomal recessive disorder, characterized by an accumulation of intralysosomal cystine, with an incidence of 1 in 100,000 to 200,000 live births...
- Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Pediatr Res 47:17-23. 2000Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis, is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease...
- The molecular basis of Dutch infantile nephropathic cystinosisS G Heil
Department of Paediatrics, UMC St. Radboud, NL-6500 HB Nijmegen, The Netherlands
Nephron 89:50-5. 2001Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes...
- CTNS mutations in an American-based population of cystinosis patientsV Shotelersuk
Section of Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
Am J Hum Genet 63:1352-62. 1998Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure at 10 years of age and other systemic complications. The gene for cystinosis, CTNS, has 12 exons. Its 2...
- A potential new prodrug for the treatment of cystinosis: design, synthesis and in-vitro evaluationBridgeen McCaughan
School of Pharmacy, The Robert Gordon University, Scotland, Aberdeen, Aberdeenshire AB10 1FR, UK
Bioorg Med Chem Lett 18:1716-9. 2008Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of most organs...
- Cysteamine prevents inhibition of thiol-containing enzymes caused by cystine or cystine dimethylester loading in rat brain cortexVirginia Cielo Rech
Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, UFRGS, Rua Ramiro Barcelos 2600, CEP 90 035 003, Porto Alegre, Rio Grande do Sul, Brazil
Metab Brain Dis 23:133-45. 2008b>Cystinosis is a systemic genetic disease caused by a lysosomal transport deficiency accumulating cystine in the lysosomes of all tissues...
- Cystine dimethylester model of cystinosis: still reliable?Martijn J Wilmer
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands
Pediatr Res 62:151-5. 2007..of cystine dimethylester (CDME) to load lysosomes with cystine has been used to establish the basic defect in cystinosis: defective cystine exodus from lysosomes...
- Lentiviral-transduced hematopoictic stem cell transplantation for cystinosisStephanie Cherqui; Fiscal Year: 2013DESCRIPTION (provided by applicant): Cystinosis is a metabolic hereditary disease characterized by intracellular accumulation of cystine...
- Pediatric Nephrology Seminar XXXIXGASTON E ZILLERUELO; Fiscal Year: 2012..renal tubular disorders affecting magnesium, phosphate and uric acid handling, biomarkers of tubular injury, cystinosis, hypertension and new developments in vascular biology, approach to evaluation and management of renovascular ..
- Kidney-targeted gene delivery for cystinosisStephanie Cherqui; Fiscal Year: 2012DESCRIPTION (provided by applicant): Cystinosis is a metabolic hereditary disease characterized by intracellular accumulation of cystine...
- Toxicology studies for gene-modified stem cell transplantation for cystinosisStephanie Cherqui; Fiscal Year: 2013DESCRIPTION (provided by applicant): Cystinosis is a metabolic hereditary disease characterized by intracellular accumulation of cystine...
- Mesenchymal Stem Cell Therapy for Corneal CystinosisJENNIFER LYNNE SIMPSON; Fiscal Year: 2013..Summary The long term goal of this proposal is to develop a successful therapeutic strategy for treating corneal cystinosis. Cystinosis is a rare lysosomal storage disease caused by a defect in the cystine lysosomal transporter ..
- Peptide Immunoaffinity enriched LC-MRM-MS analysis for Cystinosis/Wilson diseaseSihoun Hahn; Fiscal Year: 2013DESCRIPTION (provided by applicant): The early diagnosis of cystinosis and Wilson disease (WD) is critical, because effective treatments exist...
- NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSISEdwin Naylor; Fiscal Year: 2002..Dehydrogenase Deficiency T919C, C1024T, G1528C, C1570T, 675insC, IVS3 +1 G>A,VVS3 +3 A>G; 7)Nephropathic cystinosis 63 kb del, G753A, 357-360 delGACT, 537-557 del 21 bp, 1035 incC, G1261A, G1354A...
- LYSOSOMAL TRANSPORT OF NUCLEOSIDES AND NUCLEOBASESRONALD PISONI; Fiscal Year: 1992..Defects in lysosomal transport, as accentuated in the genetic disease, cystinosis, lead to lysosomal accumulation of the metabolite for which transport is impaired...
- ANTICYSTINOTIC AGENTS, RESEARCH AND DEVELOPMENTMAXIMILLIAN VON STRANDTMANN; Fiscal Year: 1992..b>Cystinosis is a rare, inborn, fatal, metabolic disorder resulting from the inability of the lysosomal tissues to clear ..
- EXPERIMENTAL CYSTINE STORAGE MODEL OF FANCONI SYNDROMEJohn Foreman; Fiscal Year: 1990..Fanconi syndrome, a global renal tubule disorder, is an enigmatic problem which most commonly is associated with cystinosis in pediatrics...
- Intercellular Signaling in Obstructive NephropathyROBERT CHEVALIER; Fiscal Year: 2005..This will lead to improved outcomes in adulthood. ..
- TGF-beta superfamily in neonatal obstructive nephropathy and recoveryRobert L Chevalier; Fiscal Year: 2010..A new animal (mouse) model is proposed to study the major cellular mechanisms for injury to the newborn kidney, as well as to evaluate new therapies to enhance recovery. ..
- ROLE OF PROTEIN KINASES IN TRANSPORT REGULATIONMary Taub; Fiscal Year: 2004..The possible involvement of an inhibitory phosphatase, in regulating the phosphorylation of the Na,K-ATPase will also be examined. ..
- Neuro-cognitive Outcome After Early Focal Brain DamageDoris Trauner; Fiscal Year: 2007..The findings may further serve as a basis from which to design more effective interventions for children at risk for cognitive dysfunction because of early brain damage. ..
- Brain Structure and Cognition in CystinosisDoris Trauner; Fiscal Year: 2007..Nephropathic cystinosis is a genetic disorder in which a specific cognitive profile of visual spatial dysfunction, with spared visual ..
- Language Development Following Early Focal Brain InjuryDoris Trauner; Fiscal Year: 2008..Knowledge gained in this study may form the basis for more effective interventions to help improve neurodevelopmental outcome of children with brain damage in the future. [unreadable] [unreadable]..
- MR PREDICTORS OF RESPONSE TO HAART IN HIV DEMENTIAJoseph Berger; Fiscal Year: 2004..It will also open novel avenues for exploring the differential sensitivities of these pathways to HAART, and suggest unique therapeutic options. ..
- NEUROSCIENCE OF HIV CONFERENCEJoseph Berger; Fiscal Year: 2002..Dr. Brian Wigdahl, international co-chair of the ISNV, is a co-investigator on this grant. ..
- JCV Virus Expression in Oropharynx and HIVJoseph Berger; Fiscal Year: 2004..This line of investigation would add credence to an oropharyngeal mechanism of JCV transmission and may ultimately lead to the clinical identification of an acute illness attributable to this pathogen. ..
- HIV Neuroprotection WorkshopJoseph Berger; Fiscal Year: 2004..The proposed conference is the first of its kind to highlight neuroprotection in HIV CNS and PNS disorders. By coupling this meeting with the International Symposium on Neurovirology this synergy can be exploited. ..
- Defining Biomarkers in Pediatric Renal TransplantationMinnie Sarwal; Fiscal Year: 2007..The genomic and tissue microarray databases will be made publicly available for the academic community to facilitate future large-scale collaborative studies. [unreadable] [unreadable] [unreadable] [unreadable]..