Published Studies Archive

The Renal Fanconi Syndrome in Cystinosis: Pathogenic Insights and Therapeutic Perspectives – Published December 2016 in Nature Reviews Nephrology by Stéphanie Cherqui, PhD, University of California, San Diego and Pierre Courtoy, MD, PhD, de Duve Institute, Brussels, Belgium.

Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis – Published September 2016 in Molecular Pharmaceutics by Ghanashyam Acharya, PhD, Baylor College of Medicine, Houston, Texas.

The Proximal Tubule is the Primary target of Injury and Progression of Kidney Disease: Role of the Glomerulotubular Junction – Published in American Journal of Physiology – Renal Physiology, May 2016 by Robert L. Chevalier, MD, University of Virginia, Charlottesville, Virginia.

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting – Published in PLOS One Journal, May 2016 by Francesco Emma, MD and Francesco Bellomo, Bambino Gesù Children’s Hospital, Rome, Italy.

Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model – Published in Endocrinology, April 2016 by Pierre Courtoy, MD, PhD, and Héloïse Chevronnay, PhD, de Duve Institute and Université Catholique de Louvain, Brussels, Belgium.

Activation of the Transcription Factor EB Rescues Lysosomal Abnormalities in Cystinotic Kidney Cells – Published in Kidney-International, March 2016 by Francesco Emma, MD, Bambino Gesù Children’s Hospital, Rome, Italy.

Impaired Lysosomal Function Underlies Monoclonal Light Chain-Associated Renal Fanconi Syndrome – Published in JASN, March 2016 by Olivier Devuyst, MD, PhD, University of Zurich, Institute of Physiology, Zürich, Switzerland.

The AP-3 Adaptor Complex Mediates Sorting of Yeast and Mammalian PQ-Loop-Family Basic Amino Acid Transporters to the Vacuolar/Lysosomal Membrane – Published in Scientific Reports, November 2015 by Bruno André, PhD, ULB – Institut de Biologie et de Médecine Moléculaires, Gosselies, Belgium

Muscle Wasting and Adipose Tissue Browning in Infantile Nephropathic Cystinosis – Published in Journal of Cachexia, Sarcopenia and Muscle, October 2015 by Robert Mak, MD, PhD, University of California, San Diego

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation – Published in IVOS, Investigative Ophthalmology & Visual Science, October 2015 by Stéphanie Cherqui, PhD, University of California, San Diego

Time Course of Pathogenic and Adaptation Mechanisms in Cystinotic Mouse Kidneys – Published in Journal of the American Society of Nephrology, JASN, by Héloïse Chevronnay, PhD, and Pierre Courtoy, MD, PhD, de Duve Institute, Brussels, Belgium

Lysosomal Targeting of Cystinosin Requires AP-3 – Published online March 2015 in Traffic by Corinne Antignac, MD, PhD, Professor, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France

The Swan-Neck Lesion: Proximal Tubular Adaptation to Oxidative Stress in Nephropathic Cystinosis – Published online February 18, 2015 for the American Journal of Physiology by Robert L. Chevalier, MD, Department of Pediatrics, University of Virginia

Ocular Drug Delivery Nanowafer with Enhanced Therapeutic Efficacy – Published online February 6, 2015 at ACSNANO by Ghanashyam Acharya, PhD, Baylor College of Medicine

Impairment of Chaperone-Mediated Autophagy Leads to Selective Lysosomal Degradation Defects in the Lysososmal Storage Disease Cystinosis – Published January 2015 in EMBO Molecular Medicine by Sergio D. Catz, PhD, The Scripps Research Institute

Clinical Utility of Chitotriosidase Enzyme Activity in Nephropathic Cystinosis – Published September 30, 2014 in Orphanet Journal of Rare Diseases by Elena Levtchenko, MD, PhD, University of Leuven, Belgium.

Lysosomal Cross-Correction by Hematopoietic Stem Cell-Derived Macrophages Via Tunneling Nanotubes – Published September 1, 2014 in Stem Cells Journal by Stephanie Cherqui, PhD, University of California, San Diego.

An Opinion Paper on Cystinosis – Published August 27, 2014 in the Nephrology Dialysis Transplantation Journal.by Elena Levtchenko, MD, PhD, University of Leuven, Belgium.

rAA V9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study – Published in the May 2014 issue of Gene Therapy by Stéphanie Cherqui, PhD, University of California, San Diego.

The Proximal Tubule in Cystinosis: Fight or Flight? – Published in the Journal of the American Society of Nephrology by Robert Chevalier, MD, University of Virginia.

The Fate of Nephrons in Congenital and heritable Renal Disorders – Published in the Journal of Pediatric and Neonatal Individualized Medicine, by Robert Chevalier, MD, University of Virginia.

Dedifferentiation and Aberrations of the Endolysosomal Compartment Characterize the Early Stage of Nephropathic Cystinosis – Published December 2013 Olivier Devuyst, MD, PhD, Division of Nephrology, Univeristé catholique de Louvain, Brussels, Belgium.

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis – Published August 2013 by Gennaro Napolitano, PhD, Sergio Catz, PhD, Scripps Research Institute, La Jolla, California

Cysteamine Modulates Oxidative Stress and Blocks Myofibroblast Activity in CKD – Published September 2013, JASN (Journal of American Society of Nephrology) by Daryl Okamura, MD, Assistant Professor of Pediatrics, Seattle Children’s Research Institute, Seattle, Washington.

Is Genetic Rescue of Cystinosis an Achievable Treatment Goal? – Published July 16, 2013, Nephrology Dialysis Transplantation: Oxford University Journals by Dr. Stéphanie Cherqui, University of California, San Diego, La Jolla, California.

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro – Published in the August 2012 issue of PLOS ONE by Paul Goodyer, MD, Professor of Pediatrics, Montreal Children’s Hospital, Quebec, Canada.

Heptahelical Protein PQLC2 is a Lysosomal Cationic Amino Acid Exporter Underlying the Action of Cysteamine in Cystinosis Therapy
– Published in the December 2012 issue of PNAS by Bruno Gasnier, PhD, CNRS Research Director, Université Paris Descartes, Paris, France.

Heptahelical Protein PQLC2 is a Lysosomal Cationic Amino Acid Exporter Underlying the Action of Cysteamine in Cystinosis Therapy (Graph Correction) – Published in the December 2012 issue of PNAS by Bruno Gasnier, PhD, CNRS Research Director, Université Paris Descartes, Paris, France.

Heptahelical Protein PQLC2 is a Lysosomal Cationic Amino Acid Exporter Underlying the Action of Cysteamine in Cystinosis Therapy (Author Summary) – Published in the December 2012 issue of PNAS by Bruno Gasnier, PhD, CNRS Research Director, Université Paris Descartes, Paris, France.

A Chimera Carrying the Functional Domain of the Orpah Protein SLC7A14 in the Backbone of SLC7A2 Mediates Trans-stimulated Arginine Transport – Published in Journal of Biological Chemistry, July 2012 by Ellen Closs, PhD, Johannes Gutenberg University, Mainz, Germany

Pharmacokinetics of Cysteamine Bitartrate Following Intraduodenal Delivery – Published in Fundamental & Clinical Pharmacology Ranjan Dohil, MD, Department of Pediatrics, University of California, San Diego.

Hematopoietic Stem Cell Gene Therapy for Multisystemic Lysosomal Storage Disorder Cystinosis – Published in Molecular Therapy by Stephanie Cherqui, PhD, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California.

Treatment of Cystinosis with Delayed-Release Cysteamine: 6-Year Follow-Up – Published in the September 2012 issue ofPediatric Nephrology by Ranjan Dohil, MD, Department of Pediatrics, Rady Children’s Hospital, University of California, San Diego.

Cystinosin is a Melanosomal Protein that Regulates Melanin Synthesis
A research paper by Robert Ballotti, PhD, INSERM, Nice, France, has been accepted for future publication in The FASEB Journal.

A Potential New Method to Estimate Tissue Cystine Content in Nephropathic Cystinosis – The Journal of Pediatrics – Published March 2012 by Ranjan Dohil, MD, University of California, San Diego

Mechanism of Proton/Substrate Coupling in the Heptahelical Lysosomal Transporter Cystinosin – Published in the PNAS early edition January 2012 by Bruno Gasnier, PhD, CNRS Research Director, Université Paris Descartes, Paris, France.

Cysteamine Therapy: A Treatment for Cystinosis, Not a Cure – Commentary by Stephanie Cherqui, PhD, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA. Published January 2012 in Kidney International Journal.

Cysteamine Restores Glutathione Redox Status in Cultured Cystinotic Proximal Tubular Epithelial Cells – BBA journal – Published June 2011 by Elena Levtchenko, MD, PhD, University Hospital, Leuven, Belgium; Martijn Wilmer, PhD, and Lambertus P. van den Heuvel, PhD

Transcriptional and Posttranscriptional Regulation of the CTNS Gene
– Published February 2011, Pediatric Research journal by Francesco Emma, MD, Division of Nephrology and Dialysis, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy.

Quantitative in Vivo and Ex Vivo Confocal Microscopy Analysis of Corneal Cystine Crystals in the Ctns-/- Knockout Mouse – Published August 2011, in the Molecular Vision Journal by Jennifer Simpson, MD, Gavin Herbert Eye Institute, University of California, Irvine, CA.

Cysteamine Toxicity in Patients with Cystinosis – Published July 2011, in the prestigious Journal of Pediatrics by Elena Levtchenko, MD, PhD, University Hospital Leuven, Belgium

The 57 KB Deletion in Cystinosis Patients Extends into TRPV1 Causing Dysregulation of Transcription in Peripheral Blood Mononuclear Cells
– Published May 2011, Journal of Medical Genetics by Katy Freed, PhD, Texas Biomedical Research Institute, San Antonio, Texas

Kidney Preservation by Bone Marrow Cell Transplantation in Hereditary Nephropathy – Published May 2011 Kidney International journal, Society of Nephrology by Brian Yeagy, PhD and Stephanie Cherqui, PhD

Kidney Repair and Stem Cells: A Complex and Controversial Process – Published January 2011 Pediatric Nephrology journal by Brian Yeagy, PhD and Stephanie Cherqui, PhD.

Analysis of CTNS Gene Transcripts in Nephropathic Cystinosis – Published March 2010, Pediatric Nephrology, by Francesco Emma, MD, Anna Taranta, PhD, Department of Hephrology and Urology, Division of Nephrology, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy.

Modulation of CTNS Gene Expression by Intracellular Thiols – Published January 2010, Free Radical Biology & Medicine by Francesco Emma, MD, Anna Taranta, PhD, Department of Hephrology and Urology, Division of Nephrology, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy.

Kidney Preservation by Bone Marrow Cell Transplantation in Hereditary Nephropathy – Published November 2010, Kidney International journal, Society of Nephrology by Brian Yeagy, PhD and Stephanie Cherqui, PhD

Long-Term Treatment of Cystinosis in Children with Twice-Daily Cysteamine – Published May 2010 – The Journal of Pediatrics by Ranjan Dohil, MD

The Redox Status of Cystinotic Fibroblasts – Published in the Journal of Molecular Genetics and Metabolism Dr. Jess Thoene January 2010

Raptor Pharmaceutical Corp. Announces Publication of results from Phase 2a Trial of DR Cysteamine for Treatment of Cystinosis – To be published by Dr. Ranjan Dohil in the Journal of Pediatrics January 2010

Renal Phenotype of the Cystinosis Mouse Model is Dependent Upon Genetic Background – Published by Corinne Antignac, MD, PhD, in the Nephrology Dialysis Transplantation Journal, October 21 2009

Novel Conditionally Immortalized Human Proximal tubule Cell Line Expressing functional Influx and Efflux Transporters – Published in Cell Tissue Research 2009, by Elena Levtchenko, MD, PhD

Successful Treatment of the Murine Model of Cystinosis Using Bone Marrow Cell Transplantation – We are pleased to announce that Dr. Stephanie Cherqui’s CRF-funded research study was recently published and is on the cover of the September 17, 2009 issue of Blood Journal.

Heterozygous Mutation of Opa 1 in Drosophila Shortens Lifespan Mediated Through Increased Reactive Oxygen Species Production – Published Plos One February 2009 by Sha Tang and Taosheng Huang, this manuscript was supported by a grant from CRF.

An Indian Boy with Nephropathis Cystinosis – A Case Report and Moelcular Analysis of CTNS Mutations – Published in Genetic Testing and Molecular Biomarkers – Volume 13, Number 4, 2209 by Sha Tang and Taosheng Huang, this manuscript was supported by a grant from CRF.

Maternal Uniparental Heterodisomy of Chromosome 17 in a Patient with Nephropathic Cystinosis – Published in the European Journal of Human Genetics (2009)

CRF First International Cystinosis Research Symposium
Abstracts – Published in the October issue of Pediatric Nephrology Journal – September 2008.

Gene Transfer May Be Preventive But Not Curative for a Lysosomal Transport Disorder – Molecular Therapy – Official Journal of the American Society of Gene Therapy – July 2008 by Vasiliki Kalatzis.

Identification and Subcellular Localization of a New Cytinosin Isoform
American Journal of Renal Physiological March 2008 by Anna Taranta, Francesco Emma, Elena Levtchenko.

Pharmacokinetics of Cysteamine Bitartrate Following Gastrointestinal Infusion – British Journal of Clinical Pharmacology August 2006 by Meredith C. Fidler, Bruce A. Barshop, Jon A. Gangoiti, Reena Deutsch, Michael Martin, Jerry A. Schneider and Ranjan Dohil, Departments of Pediatrics and Family and Preventive Medicine, University of California San Diego.

Understanding Intestinal Cysteamine Bitartrate Absorption Journal of Pediatrics – June 2006 – Findings from the first phase of Dr. Ranjan Dohil’s Cysteamine Absorption Study were published in June 2006 in the Journal of Pediatrics. The objective of this study funded by the Cystinosis Research Foundation, is to test the hypothesis that a controlled-release preparation of cysteamine would improve compliance thereby significantly improve the quality of life for children and adults with Cystinosis. CRF has funded phase two of Dr.Dohil’s study, “A Study to Evalutate Enteric-Coated Cysteamine Therapy in Patients with Cystinosis” which is currently underway. We are fortunate to have  dedicated doctors and scientists like Dr. Dohil working on better treatments and a cure for Cystinosis. Congratulations to Dr. Dohil for being published and acknowledged for his progress.

A Deeper Look into Cysteamine Absorption for the Treatment of Cystinosis – Editorial – Journal of Pediatrics June 2006.

Treatment of YAC128 Mice and Their Wild-type Littermates with Cystaimine Does Not Lead to its Accumulation in Plasma or Brain: Implications for the Treatment of Huntington Disease – International Society for Neurochemistry 2005 – This research study by Dr. Tom Jeitner focused on cysteamine and its analogs to determine whether there are better methods of treatment and drug delivery was funded by the Cystinosis Research Foundation.

Potential Role of Apoptosis in Development of the Cystinotic Phenotype – Pediatric Nephrology Journal December 2004 – Results from Dr. Jess Thoene’s research on lysosomal cystine causing enhanced apoptosis. The study was funded by the Cystinosis Research Foundation.

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