Published Studies

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 Cystinosispublished 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.

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