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Select item 103490911.

Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization

Marine Berquez, Zhiyong Chen, Beatrice Paola Festa, Patrick Krohn, Svenja Aline Keller, Silvia Parolo, Mikhail Korzinkin, Anna Gaponova, Endre Laczko, Enrico Domenici, Olivier Devuyst, Alessandro Luciani

Nat Commun. 2023; 14: 3994. Published online 2023 Jul 14. doi: 10.1038/s41467-023-39261-3

PMCID:: PMC10349091

Abstract Article PDF–4.5M

Select item 89356602.

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model

Spencer Goodman, Meisha Khan, Jay Sharma, Zijie Li, Jose Cano, Carlos Castellanos, Monica V. Estrada, Ilya Gertsman, Stephanie Cherqui

Mol Genet Metab. Author manuscript; available in PMC 2022 Mar 21.

Published in final edited form as: Mol Genet Metab. 2021 Dec; 134(4): 309–316. Published online 2021 Nov 17. doi: 10.1016/j.ymgme.2021.11.006

PMCID:: PMC8935660

Abstract Article PDF–1.5M

Select item 72694163.

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis

Tatiana Lobry, Roy Miller, Nathalie Nevo, Celine J. Rocca, Jinzhong Zhang, Sergio D. Catz, Fiona Moore, Lucie Thomas, Daniel Pouly, Anne Bailleux, Ida Chiara Guerrera, Marie-Claire Gubler, Wai W. Cheung, Robert H. Mak, Tristan Montier, Corinne Antignac, Stephanie Cherqui

Kidney Int. Author manuscript; available in PMC 2020 Jun 3.

Published in final edited form as: Kidney Int. 2019 Aug; 96(2): 350–362. Published online 2019 Mar 6. doi: 10.1016/j.kint.2019.01.029

PMCID:: PMC7269416

Abstract Article PDF–1006K

Select item 68307924.

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression

Virginie Janssens, Héloïse P. Gaide Chevronnay, Sandrine Marie, Marie-Françoise Vincent, Patrick Van Der Smissen, Nathalie Nevo, Seppo Vainio, Rikke Nielsen, Erik I. Christensen, François Jouret, Corinne Antignac, Christophe E. Pierreux, Pierre J. Courtoy

J Am Soc Nephrol. 2019 Nov; 30(11): 2177–2190. Published online 2019 Sep 23. doi: 10.1681/ASN.2019040371

PMCID:: PMC6830792

Abstract Article

Select item 67356755.

Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency

Jinzhong Zhang, Jing He, Jennifer L. Johnson, Gennaro Napolitano, Mahalakshmi Ramadass, Farhana Rahman, Sergio D. Catz

Autophagy. 2019; 15(10): 1738–1756. Published online 2019 Apr 5. doi: 10.1080/15548627.2019.1596475

PMCID:: PMC6735675

Abstract Article PDF–6.5M

Select item 57651406.

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani

Nat Commun. 2018; 9: 161. Published online 2018 Jan 11. doi: 10.1038/s41467-017-02536-7

PMCID:: PMC5765140

Abstract Article PDF–4.7M

Select item 54815487.

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A

Jinzhong Zhang, Jennifer L. Johnson, Jing He, Gennaro Napolitano, Mahalakshmi Ramadass, Celine Rocca, William B. Kiosses, Cecilia Bucci, Qisheng Xin, Evripidis Gavathiotis, Ana María Cuervo, Stephanie Cherqui, Sergio D. Catz

J Biol Chem. 2017 Jun 23; 292(25): 10328–10346. Published online 2017 May 2. doi: 10.1074/jbc.M116.764076

PMCID:: PMC5481548

Abstract Article PDF–6.3M

Select item 48840978.

Cystinosin is a Component of the Vacuolar H⁺-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling

Zuzanna Andrzejewska, Nathalie Nevo, Lucie Thomas, Cerina Chhuon, Anne Bailleux, Véronique Chauvet, Pierre J. Courtoy, Marie Chol, Ida Chiara Guerrera, Corinne Antignac

J Am Soc Nephrol. 2016 Jun; 27(6): 1678–1688. Published online 2015 Oct 8. doi: 10.1681/ASN.2014090937

PMCID:: PMC4884097

Abstract Article

Select item 48167249.

Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model

H. P. Gaide Chevronnay, V. Janssens, P. Van Der Smissen, C. J. Rocca, X. H. Liao, S. Refetoff, C. E. Pierreux, S. Cherqui, P. J. Courtoy

Endocrinology. 2016 Apr; 157(4): 1363–1371. Published online 2016 Jan 26. doi: 10.1210/en.2015-1762

PMCID:: PMC4816724

Abstract Article

Select item 464047610.

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

Celine J. Rocca, Alexander Kreymerman, Sarah N. Ur, Katie E. Frizzi, Swati Naphade, Athena Lau, Tammy Tran, Nigel A. Calcutt, Jeffrey L. Goldberg, Stephanie Cherqui

Invest Ophthalmol Vis Sci. 2015 Nov; 56(12): 7214–7223. Published online 2015 Nov 5. doi: 10.1167/iovs.15-17107

PMCID:: PMC4640476

Abstract Article PDF–1.1M

Select item 443062111.

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

H. P. Gaide Chevronnay, V. Janssens, P. Van Der Smissen, X. H. Liao, Y. Abid, N. Nevo, C. Antignac, S. Refetoff, S. Cherqui, C. E. Pierreux, P. J. Courtoy

Endocrinology. 2015 Jun; 156(6): 2349–2364. Published online 2015 Mar 26. doi: 10.1210/en.2014-1672

PMCID:: PMC4430621

Abstract Article

Select item 432864612.

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz

EMBO Mol Med. 2015 Feb; 7(2): 158–174. Published online 2015 Jan 13. doi: 10.15252/emmm.201404223

PMCID:: PMC4328646

Abstract Article PDF–2.9M

Select item 410976713.

Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate

Iryna Sutter, Rebekka Park, Alaa Othman, Lucia Rohrer, Thorsten Hornemann, Markus Stoffel, Olivier Devuyst, Arnold von Eckardstein

J Lipid Res. 2014 Aug; 55(8): 1730–1737. doi: 10.1194/jlr.M050021

PMCID:: PMC4109767

Abstract Article PDF–826K

Select item 403336914.

Time Course of Pathogenic and Adaptation Mechanisms in Cystinotic Mouse Kidneys

Héloïse P. Gaide Chevronnay, Virginie Janssens, Patrick Van Der Smissen, Francisca N’Kuli, Nathalie Nevo, Yves Guiot, Elena Levtchenko, Etienne Marbaix, Christophe E. Pierreux, Stéphanie Cherqui, Corinne Antignac, Pierre J. Courtoy

J Am Soc Nephrol. 2014 Jun; 25(6): 1256–1269. Published online 2014 Feb 13. doi: 10.1681/ASN.2013060598

PMCID:: PMC4033369

Abstract Article

Select item 371968015.

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis

Jennifer L. Johnson, Gennaro Napolitano, Jlenia Monfregola, Celine J. Rocca, Stephanie Cherqui, Sergio D. Catz

Mol Cell Biol. 2013 Aug; 33(15): 2950–2962. doi: 10.1128/MCB.00417-13

PMCID:: PMC3719680

Abstract Article PDF–3.5M

Select item 320942116.

Evaluation of topical cysteamine therapy in the CTNS^−/− knockout mouse using in vivo confocal microscopy

Jennifer L. Simpson, Chyong Jy Nien, Kevin J. Flynn, James V. Jester

Mol Vis. 2011; 17: 2649–2654. Published online 2011 Oct 8.

PMCID:: PMC3209421

Abstract Article PDF–1.7M

Select item 317805917.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 316468518.

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns^−/− knockout mouse

Jennifer Simpson, Chyong Jy Nien, Kevin Flynn, Brian Jester, Stephanie Cherqui, James Jester

Mol Vis. 2011; 17: 2212–2220. Published online 2011 Aug 17.

PMCID:: PMC3164685

Abstract Article PDF–919K

Select item 141356819.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

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