Nlrp2 Deletion Ameliorates Renal Damage in a Mouse Model of Cystinosis, published in Frontiers in Immunology, in April 2024, by Giusi Prencipe, PhD, Laboratory of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy. 

Dietary Supplementation of Cystinotic Mice by Lysine Inhibits the Megalin Pathway and Decreases Kidney Cystine Content, published in Scientific Reports, October 2023, by Pierre Courtoy, MD, PhD, and Christophe E. Pierreux, PhD, de Duve Institute & Université Catholique de Louvain, Brussels, Belgium.

Rescue of Alzheimer’s Disease Phenotype in a Mouse Model by Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells, published August 8, 2023, in Cell Reports by Stéphanie Cherqui, PhD, Professor, at the University of California, San Diego.

Multisystem Involvement, Defective Lysosomes and Impaired Autophagy in a Novel Rat Model of Nephropathic Cystinosis, by Olivier Devuyst, MD, PhD, and Francesco Emma, MD, Bambino Gesù
Children’s Hospital, Rome, Italy. Published in Human Molecular Genetics.

Lysosomal Cystine Export Regulates mTORC1 Signaling to Guide Kidney Epithelial Cell Fate Specialization, published July 14, 2023, in Nature Communications by Olivier Devuyst, MD, PhD, and Alessandro Luciani, PhD, Institute of Physiology, University of Zürich, Switzerland.

Neuro-Cognitive Complications of Nephropathic Cystinosis, published July 2023 in Journal of Rare Diseases, by Doris A. Trauner, MD, Department of Neurosciences, University of California, San Diego Health Sciences, Rady Children’s Hospital, San Diego, California.Toggle Content

Structure and Mechanism of Human Cystine Exporter Cystinosin published in Cell, August 20, 2022, by Xue Guo, PhD, and Liang Feng, PhD, Stanford University, Stanford, California

Ocular Biodistribution of Cysteamine Delivered by a Sustained Release Microsphere/Thermoresponsive Gel Eyedrop, published July 7, 2022, in the International Journal of Pharmaceutics by Morgan V. DiLeo, PhD, and Ken K. Nischal, MD, FRCO, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Longitudinal Dysphagia Assessment in Adult Patients with Nephropathic Cystinosis using the Modified Barium Swallow Impairment Profile, published May 20, 2022, in Muscle & Nerve by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts.  

Lysosomal Cystine Mobilization Shapes the Response of TORC1 and Tissue Growth to Fasting, published February 18, 2022, in Science by Matias Simons, MD, Research Mentor and Marelja Zvonimir, PhD, Research Fellow, INSERM Imagine Institute, Paris, France.

Central Nervous System Complications in Cystinosis: The Role of Neuroimaging, published February 15, 2022, in Cells by Aude Servais, MD, PhD, Hospital Necker, Paris, France. 

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies, published January 6, 2022 in Cells by Giusi Prencipe, PhD, Bambino Gesù Children’s Hospital, Rome, Italy.

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis, published November 27, 2021, in the International Journal of Molecular Sciences, by Francesco Bellomo, PhD, Anna Taranta, PhD, and Francesco Emma, MD, Bambino Gesù Children’s Hospital, Rome, Italy.

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis, published November 24, 2021, in the Cells Journal by Anna Taranta, PhD, Francesco Bellomo, PhD, and Francesco Emma, MD, Bambino Gesù Children’s Hospital, Rome, Italy.

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside, published November 2021, in the Cells Journal, by Stéphanie Cherqui, PhD, University of California, San Diego.

Deficiency of the Sedoheptulose Kinase (Shpk) Does Not Alter the Ability of Hematopoietic Stem Cells to Rescue Cystinosis in the Mouse Model, published November 2021, in the Molecular Genetics and Metabolism Journal, by Stéphanie Cherqui, PhD, University of California, San Diego.

A Sustained Release Cysteamine Microsphere/Thermoresponsive Gel Eyedrop for Corneal Cystinosis Improves Drug Stability published October 2021 in the Drug Delivery and Translational Research Journal by Morgan Fedorchak, PhD, and Ken Nischal, MD, FRCO, University of Pittsburgh, Pittsburgh, Pennsylvania. 

DYNC1LI2 Regulates Localization of the Chaperone-Mediated Autophagy Receptor LAMP2A and Improves Cellular Homeostasis in Cystinosis published October 2021 in the Journal of Autophagy by Sergio Catz, PhD, The Scripps Research Institute, La Jolla, California.

Arginine-Selective Modulation of the Lysosomal Transporter PQLC2 through a Gate-Tuning Mechanism published August 2021 in the PNAS Journal (Proceedings of the National Academy of Sciences of the United States), by Bruno Gasnier, PhD, Paris-Descartes University, Paris France.

A  Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia published July 2021 in Cells Journal by Robert H. Mak, MD, PhD, Rady Children’s Hospital, University of California, San Diego. 

Targeting Interleukin-1 for Reversing Fat Browning and Muscle Wasting in Infantile Nephropathic Cystinosis published June 2021 in the Journal of Cachexia, Sarcopenia, and Muscle by Robert H. Mak, MD, PhD, Rady Children’s Hospital, University of California, San Diego.  

Non-Invasive Intradermal Imaging of Cystine Crystals in Cystinosis published March 2021 in the PLOS One (Public Library of Science Journal) by Stéphanie Cherqui, PhD, University of California, San Diego.

Clinical Trial Readiness Study of Distal Myopathy and Dysphagia in Nephropathic Cystinosis published July 2020 in the Muscle & Nerve Journal by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts.

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression published June 2020 in the Journal of the American Society of Nephrology by Pierre Courtoy MD, PhD, and Christophe Pierreux, PhD., de Duve Institute, Brussels, Belgium.

Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis published July 2020 in the Journal of the American Society of Nephrology by Laura Rita Rega, PhD, and Francesco Emma, MD, Bambino Gesù Childrens Hospital, Rome, Italy. 

Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis, published January 2020 in the International Journal of Molecular Sciences by Francesco Bellomo, PhD, and Francesco Emma, MD, Bambino Gesù Childrens Hospital, Rome, Italy

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy, published March 2020 in the International Journal of Molecular Sciences by Justine Bacchetta, MD, PhD, and Irma Machuca-Gayet, PhD, Hospices Civils de Lyon, Lyon, France.

Use of Human Induced Pluripotent Stem Cells and Kidney Organoids to Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis, published March 2020 in Journal of the American Society of Nephrology by Alan J. Davidson, PhD, Teresa Holm, MD, PhD, and Jennifer Hollywood, PhD, University of Auckland, New Zealand. 

Visual and Verbal Learning and Memory in Cystinosis, published June 2019 in Brain and Cognition Journal by Doris A. Trauner, MD, University of California, San Diego.

Interaction Between Galectin-3 and Cystinosin Uncovers a Pathogenic Role of Inflammation in Kidney Involvement of Cystinosis, published April 2019 in Kidney International by Stéphanie Cherqui, PhD, University of California, San Diego, in collaboration with Corinne Antignac, MD, PhD, Imagine Institute, Paris, France, Sergio Catz, PhD, The Scripps Research Institute, La Jolla, California, and Robert Mak, MD, PhD, University of California, San Diego and Tatiana Lobry, University of California, San Diego.

The Aminoglycoside Geneticin Permits Translational Readthrough of the CTNS W138X Nonsense mutation in Fibroblasts from Patients with Nephropathic Cystinosis, published in February 2019 in Pediatric Nephrology by Paul Goodyer, MD, The Research Institute of the McGill University, Montreal, Canada

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells, published February 2019 in Frontiers in Endocrinology by Sergio Catz, PhD, The Scripps Research Institute, La Jolla, California

Intrinsic Bone Defects in Cystinotic Mice, published January 2019 in The American Journal of Pathology by Anna Taranta, PhD, Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children’s Hospital, Rome, Italy.

A Genetic Screen for Investigating the Human Lysosomal Cystine Transporter, Cystinosin, Published online February 21, 2018 in Scientific Reports, by Anand Kumar Bacchawat, PhD, FNA, FNASc, FASc, Indian Institute of Science and Education Research Mohali, Punjab, India.

Potential Use of Stem Cells as a Therapy for Cystinosis, Published online May 22, 2018 in Pediatric Nephrology, by Stéphanie Cherqui, PhD, and Celine J. Rocca, PhD, Department of Pediatrics, Division of Genetics, University of California, San Diego.

Impaired Autophagy Bridges Lysosomal Storage Disease and Epithelial Dysfunction in the Kidney, Published January 2018 in Nature Communications, by Olivier Devuyst, MD, PhD and Alessandro Luciani, PhD, University of Zürich, Switzerland

All-Purpose HSCs, Published November 30, 2017 in BIOCENTURY Innovations Journal highlights Dr. Stéphanie Cherqui’s stem cell research at the University of California San Diego.

Transplantation of Wild-Type Mouse Hematopoietic Stem and Progenitor Cells Ameliorates Deficits in a Mouse Model of Friedreich’s Ataxia,  Published November 2017 in Science Translational Medicine by Stéphanie Cherqui, PhD, University of California, San Diego.