Results 61 to 70 of about 459 (116)

Mitochondrial Homeostasis in Pancreatic β Cell Function: Mechanisms and Therapeutic Targets for Diabetes

Journal of Diabetes, Volume 18, Issue 5, May 2026.
This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li, Bingqian Zhang, Yuxin Zhang, Yang Yang, Yuting Lu, Jingya Li   +5 more
wiley   +1 more source

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis

BMC Genomic Data
Background Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter.
Leila Adda Neggaz, Amira Chahinez Dahmani, Ibtissem Derriche, Nawel Adda Neggaz, Abdallah Boudjema   +4 more
doaj   +1 more source

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis

Cells, 2021
Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal ...
Anna Taranta, Mohamed A. Elmonem, Francesco Bellomo, Ester De Leo, Sara Boenzi, Manoe J. Janssen, Amer Jamalpoor, Sara Cairoli, Anna Pastore, Cristiano De Stefanis, Manuela Colucci, Laura R. Rega, Isabella Giovannoni, Paola Francalanci, Lambertus P. van den Heuvel, Carlo Dionisi-Vici, Bianca M. Goffredo, Rosalinde Masereeuw, Elena Levtchenko, Francesco Emma   +19 more
doaj   +1 more source

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Louise Medaer, Roger Mora, Zhuoheng Zhou, Nefele Giarratana, Laura Yedigaryan, Rita La Rovere, Elena Levtchenko, Vincent Mouly, Els Verhoeyen, Sebastiaan Eeltink, Achim Treumann, Tim Vervliet, Maurilio Sampaolesi, Rik Gijsbers   +13 more
wiley   +1 more source

Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children

Iraqi Journal of Pharmaceutical Sciences, 2021
Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation ...
Zainab A. Al-Kinani, Shatha H. Ali
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

mRNA therapy: A new frontier in regenerative medicine

Interdisciplinary Medicine, Volume 3, Issue 2, March 2025.
This review discussed the potential of mRNA drugs in regenearative medicine, highlighting the key processes of mRNA therapy, focusing on therapeutic mRNA modification and delivery carriers. The preclinical and clinical studies of mRNA therapeutics for regeneration of cardiac, lung, liver, kidney, locomotor system, skin lesions and neurological ...
Ding‐Ding Xue, Yue Zhang, An‐Ran Shen, Tao‐Tao Tang, Bi‐Cheng Liu, Lin‐Li Lv   +5 more
wiley   +1 more source

Dental implant placement in a patient with cystinosis. A case report

Journal of Oral Medicine and Oral Surgery, 2018
Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of
Bretaudeau Clara, Paredes Francesca Siu, Sergheraert Johan, Massa Luciana, Laurence Sébastien, Diebold Marie-Hélène, Lefèvre Benoît, Mauprivez Cédric   +7 more
doaj   +1 more source

TMEM106B C‐terminal fragments aggregate and drive neurodegenerative proteinopathy in transgenic Caenorhabditis elegans

Alzheimer's &Dementia, Volume 21, Issue 2, February 2025.
Abstract INTRODUCTION Genetic variation in the lysosomal and transmembrane protein 106B (TMEM106B) modifies risk for several neurodegenerative disorders, especially frontotemporal lobar degeneration (FTLD). The C‐terminal (CT) domain of TMEM106B occurs as fibrillar protein deposits in the brains of dementia patients.
Ruben Riordan, Aleen Saxton, Marina Han, Pamela J. McMillan, Rebecca L. Kow, Nicole F. Liachko, Brian C. Kraemer   +6 more
wiley   +1 more source

The assessment and treatment of the musculoskeletal manifestations of cystinosis

Frontiers in Nephrology
Cystinosis is a rare autosomal recessive lysosomal storage disease caused by a defective lysosomal cystine carrier protein, cystinosin, resulting in formation and deposition of cystine crystals throughout the body. The renal manifestations of the disease
Priya Singh, D’Arcy Marsh, Melinda Sharkey   +2 more
doaj   +1 more source