Get started
Award

R01 DK090058

Funded outputs count: 28
Funder award ID: R01 DK090058
OpenAlex ID: G1933003001
Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis
2024 · Farhana Rahman, Jennifer L. Johnson, et al. · Molecular and Cellular Biology · 2
Cystinose
2023 · Stéphanie Cherqui · médecine/sciences · 7
PDF
Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
2021 · Stephanie Cherqui · Cells · 32
PDF
Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model
2021 · Spencer Goodman, Meisha Khan, et al. · Molecular Genetics and Metabolism · 5
PDF
DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis
2021 · Farhana Rahman, Jennifer L. Johnson, et al. · Autophagy · 20
Non-invasive intradermal imaging of cystine crystals in cystinosis
2021 · Marya Bengali, Spencer Goodman, et al. · PLoS ONE · 8
PDF
Super-Resolution Microscopy and Particle-Tracking Approaches for the Study of Vesicular Trafficking in Primary Neutrophils
2020 · Jennifer L. Johnson, Kersi Pestonjamasp, et al. · Methods in molecular biology · 7
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich’s Ataxia
2020 · Celine J. Rocca, Joseph N. Rainaldi, et al. · Molecular Therapy — Methods & Clinical Development · 41
PDF
Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking
2019 · Spencer Goodman, Swati Naphade, et al. · Scientific Reports · 51
PDF
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis
2019 · Tatiana Lobry, Roy Miller, et al. · Kidney International · 40
Gene Transfer to Mouse Kidney In Vivo
2019 · C. J. Rocca, S. Cherqui · Methods in molecular biology · 7
Potential use of stem cells as a therapy for cystinosis
2018 · Celine J. Rocca, Stephanie Cherqui · Pediatric Nephrology · 26
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich’s ataxia
2017 · Celine J. Rocca, Spencer M. Goodman, et al. · Science Translational Medicine · 78
Tunneling Nanotubes and Gap Junctions–Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions
2017 · Jennifer Ariazi, Andrew Benowitz, et al. · Frontiers in Molecular Neuroscience · 250
PDF
Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A
2017 · Jinzhong Zhang, Jennifer L. Johnson, et al. · Journal of Biological Chemistry · 89
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives
2016 · Stephanie Cherqui, Pierre J. Courtoy · Nature Reviews Nephrology · 202
PDF
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model
2016 · H. P. Gaide Chevronnay, V. Janssens, et al. · Endocrinology · 43
PDF
Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation
2015 · Celine J. Rocca, Alexander Kreymerman, et al. · Investigative Ophthalmology & Visual Science · 37
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis
2015 · Wai W. Cheung, Stephanie Cherqui, et al. · Journal of Cachexia Sarcopenia and Muscle · 28
PDF
A Mouse Model Suggests Two Mechanisms for Thyroid Alterations in Infantile Cystinosis: Decreased Thyroglobulin Synthesis Due to Endoplasmic Reticulum Stress/Unfolded Protein Response and Impaired Lysosomal Processing
2015 · H. P. Gaide Chevronnay, V. Janssens, et al. · Endocrinology · 46
Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
2015 · Gennaro Napolitano, Jennifer L Johnson, et al. · EMBO Molecular Medicine · 97
Brief Reports: Lysosomal Cross-Correction by Hematopoietic Stem Cell-Derived Macrophages Via Tunneling Nanotubes
2014 · Swati Naphade, Jay Sharma, et al. · Stem Cells · 132
PDF
rAAV9 combined with renal vein injection is optimal for kidney-targeted gene delivery: conclusion of a comparative study
2014 · C J Rocca, S N Ur, et al. · Gene Therapy · 85
Time Course of Pathogenic and Adaptation Mechanisms in Cystinotic Mouse Kidneys
2014 · Héloïse P. Gaide Chevronnay, Virginie Janssens, et al. · Journal of the American Society of Nephrology · 83
Is genetic rescue of cystinosis an achievable treatment goal?
2013 · S. Cherqui · Nephrology Dialysis Transplantation · 8
PDF
Year
Topic