Published Studies
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.
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.
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.
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.
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
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
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
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 - Publised 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.
