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Items: 1 to 20 of 35

1.
Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation
Ramkumar Thiyagarajan, Mary Taub
Int J Mol Sci. 2023 Dec; 24(23): 17004. Published online 2023 Nov 30. doi: 10.3390/ijms242317004
PMCID:
PMC10707122
AbstractArticlePDF–8.9M
2.
Structure and Mechanism of Human Cystine Exporter Cystinosin
Xue Guo, Philip Schmiege, Tufa E. Assafa, Rong Wang, Yan Xu, Linda Donnelly, Michael Fine, Xiaodan Ni, Jiansen Jiang, Glenn Millhauser, Liang Feng, Xiaochun Li
Cell. Author manuscript; available in PMC 2023 Sep 29.
Published in final edited form as: Cell. 2022 Sep 29; 185(20): 3739–3752.e18. Published online 2022 Sep 15. doi: 10.1016/j.cell.2022.08.020
PMCID:
PMC9530027
AbstractArticlePDF–2.7M
3.
Cystinosis and two rare mutations in CTNS gene: two case reports
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati
J Med Case Rep. 2022; 16: 181. Published online 2022 May 6. doi: 10.1186/s13256-022-03379-7
PMCID:
PMC9074344
AbstractArticlePDF–1.0M
4.
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
Diagn Pathol. 2022; 17: 44. Published online 2022 May 6. doi: 10.1186/s13000-022-01221-8
PMCID:
PMC9074260
AbstractArticlePDF–4.4M
5.
Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
Stephanie Cherqui
Cells. 2021 Dec; 10(12): 3273. Published online 2021 Nov 23. doi: 10.3390/cells10123273
PMCID:
PMC8699556
AbstractArticlePDF–13M
6.
罕见病研究：CTNS基因突变致胱氨酸贮积症
王 欣, 张 碧丽, 陈 晓颖, 郭 珍
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Dec 15; 23(12): 1276–1281. Chinese. doi: 10.7499/j.issn.1008-8830.2109042
PMCID:
PMC8690714
AbstractArticlePDF–919K
7.
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation
Thomas Quinaux, Aurélia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta
Cells. 2021 Sep; 10(9): 2498. Published online 2021 Sep 21. doi: 10.3390/cells10092498
PMCID:
PMC8467406
AbstractArticlePDF–963K
8.
Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm
Orphanet J Rare Dis. 2021; 16: 177. Published online 2021 Apr 13. doi: 10.1186/s13023-021-01818-0
PMCID:
PMC8045394
AbstractArticlePDF–1.0M
9.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
10.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
11.
A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin
Anup Arunrao Deshpande, Anuj Shukla, Anand Kumar Bachhawat
Sci Rep. 2018; 8: 3442. Published online 2018 Feb 21. doi: 10.1038/s41598-018-21483-x
Correction in:
Sci Rep. 2019; 9: 15003.
PMCID:
PMC5821828
AbstractArticlePDF–1.8M
12.
Potential dual function of PQ-loop proteins such as cystinosin
Vladimir Saudek
J Biol Chem. 2017 Sep 8; 292(36): 15133. doi: 10.1074/jbc.L117.795278
PMCID:
PMC5592687
ArticlePDF–83K
13.
Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)
Nathalie Nevo, Lucie Thomas, Cerina Chhuon, Zuzanna Andrzejewska, Joanna Lipecka, François Guillonneau, Anne Bailleux, Aleksander Edelman, Corinne Antignac, Ida Chiara Guerrera
Mol Cell Proteomics. 2017 Mar; 16(3): 457–468. Published online 2017 Jan 12. doi: 10.1074/mcp.M116.063867
PMCID:
PMC5341006
AbstractArticlePDF–2.3M
14.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M
15.
Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting
Francesco Bellomo, Anna Taranta, Stefania Petrini, Rossella Venditti, Maria Teresa Rocchetti, Laura Rita Rega, Serena Corallini, Loreto Gesualdo, Maria Antonietta De Matteis, Francesco Emma
PLoS One. 2016; 11(5): e0154805. Published online 2016 May 5. doi: 10.1371/journal.pone.0154805
PMCID:
PMC4858208
AbstractArticlePDF–13M
16.
A case of corneal cystinosis in a patient with rickets and chronic renal failure
Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung
Indian J Ophthalmol. 2015 Oct; 63(10): 785–787. doi: 10.4103/0301-4738.171509
PMCID:
PMC4728978
AbstractArticlePDF–771K
17.
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu
ScientificWorldJournal. 2015; 2015: 309410. Published online 2015 Mar 17. doi: 10.1155/2015/309410
PMCID:
PMC4381850
AbstractArticlePDF–896K
18.
Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin
Ekaterina A. Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N. Levtchenko
PLoS One. 2015; 10(3): e0120998. Published online 2015 Mar 26. doi: 10.1371/journal.pone.0120998
PMCID:
PMC4374958
AbstractArticlePDF–2.8M
19.
Two novel CTNS mutations in cystinosis patients in Thailand
Patra Yeetong, Siraprapa Tongkobpetch, Pornchai Kingwatanakul, Tawatchai Deekajorndech, Isa M. Bernardini, Kanya Suphapeetiporn, William A. Gahl, Vorasuk Shotelersuk
Gene. Author manuscript; available in PMC 2013 Oct 4.
Published in final edited form as: Gene. 2012 May 15; 499(2): 323–325. Published online 2012 Mar 16. doi: 10.1016/j.gene.2012.03.047
PMCID:
PMC3790313
AbstractArticlePDF–531K
20.
Genetic basis of cystinosis in Turkish patients: a single-center experience
Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl
Pediatr Nephrol. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Pediatr Nephrol. 2012 Jan; 27(1): 115–121. Published online 2011 Jul 24. doi: 10.1007/s00467-011-1942-6
PMCID:
PMC3501933
AbstractArticlePDF–239K

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