Results 81 to 90 of about 6,358 (193)

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, EarlyView.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.

Journal of the American Society of Nephrology, 2020
BACKGROUND Mutations in CTNS-a gene encoding the cystine transporter cystinosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinosis.
J. Hollywood, Aneta Przepiorski, R. D’Souza, Sreevalsan Sreebhavan, E. Wolvetang, P. Harrison, A. Davidson, Teresa M. Holm   +7 more
semanticscholar   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman   +2 more
wiley   +1 more source

CTNS mutations in publicly-available human cystinosis cell lines

Molecular Genetics and Metabolism Reports, 2015
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel   +3 more
doaj   +1 more source

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities.
I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers   +17 more
wiley   +1 more source

Renal Transplantation in Patients with Cystinosis – A Case Series

Indian Journal of Transplantation
Cystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan, Dinesh Kannabhiran, Kanakaraj Arumugham, Rajan Ravichandran   +3 more
doaj   +1 more source

Mechanisms and therapeutic potential of disulphidptosis in cancer

Cell Proliferation, Volume 58, Issue 1, January 2025.
SLC7A11 plays a pivotal role in tumour development by facilitating cystine import to enhance glutathione synthesis and counteract oxidative stress. Disulphidptosis, an emerging form of cell death observed in cells with high expression of SLC7A11 under glucose deprivation, is regulated through reduction–oxidation reactions and disulphide bond formation.
Yanhu Li, Haijun Zhang, Fengguang Yang, Daxue Zhu, Shijie Chen, Zhaoheng Wang, Ziyan Wei, Zhili Yang, Jingwen Jia, Yizhi Zhang, Dongxin Wang, Mingdong Ma, Xuewen Kang   +12 more
wiley   +1 more source

Improving Patient Understanding of Glomerular Disease Terms With ChatGPT

International Journal of Clinical Practice, Volume 2025, Issue 1, 2025.
Background: Glomerular disease is complex and difficult for patients to understand, as it involves various pathophysiology, immunology, and pharmacology areas. Objective: This study explored whether ChatGPT can maintain accuracy while simplifying glomerular disease terms to enhance patient comprehension.
Yasir H. Abdelgadir, Charat Thongprayoon, Iasmina M. Craici, Wisit Cheungpasitporn, Jing Miao, Harry H. X. Wang   +5 more
wiley   +1 more source

Anaesthetic management of a child with cystinosis

Egyptian Journal of Anaesthesia, 2017
Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma, Vandana Sharma, Pradeep K. Bhatia, Nikhil Kothari   +3 more
doaj  

Inducing disulfidptosis in tumors:potential pathways and significance

MedComm, Volume 5, Issue 11, November 2024.
Exploring the mechanisms of disulfidptosis reveals potential pathways to induce tumor cell death. Tumor cells with high SLC7A11 expression uptake a large amount of cystine to meet their metabolic needs. The reduction of cystine requires the involvement of the Trx system and NADPH.
Tao Mi, Xiangpan Kong, Meiling Chen, Peng Guo, Dawei He   +4 more
wiley   +1 more source