Results 71 to 80 of about 459 (116)

The impact of cysteine on lifespan in three model organisms: A systematic review and meta‐analysis

Aging Cell, Volume 24, Issue 2, February 2025.
We conducted a meta‐analysis to investigate the impact of cysteine supplementation on lifespan in mice, nematodes, and fruit flies. Positive effects were observed in C. elegans, transgenic flies, and disease model mice, but not in wild‐type flies and wild‐type mice.
Yue Ma, Mengqi Chen, Kaiyao Huang, Wakam Chang   +3 more
wiley   +1 more source

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells

Frontiers in Endocrinology, 2019
Cystinosis is a lysosomal storage disorder caused by defects in CTNS, the gene that encodes the lysosomal cystine transporter cystinosin. Patients with nephropathic cystinosis are characterized by endocrine defects, defective proximal tubule cell (PTC ...
Jinzhong Zhang, Jing He, Jennifer L. Johnson, Farhana Rahman, Evripidis Gavathiotis, Ana Maria Cuervo, Sergio D. Catz   +6 more
doaj   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder

Journal of Cachexia, Sarcopenia and Muscle, Volume 15, Issue 6, Page 2447-2459, December 2024.
Abstract Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations. C57BL/6 Ctns−/− mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability to eliminate the hormone leptin in CKD.
Wai W. Cheung, Ping Zhou, Ronghao Zheng, Arieh Gertler, Eduardo A. Oliveira, Robert H. Mak   +5 more
wiley   +1 more source

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond

Experimental and Molecular Pathology
Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter.
Angelo Santoro, Yuri Vincenzo Ferrara, Alfonso De Angelis   +2 more
doaj   +1 more source

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

The Scientific World Journal, 2015
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu   +10 more
doaj   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

The metabolism of melanin synthesis—From melanocytes to melanoma

Pigment Cell &Melanoma Research, Volume 37, Issue 4, Page 438-452, July 2024.
Melanin synthesis requires coordinated metabolism across the subcellular compartments within melanocytes. In this review, the metabolism of melanin synthesis is discussed in detail with special emphasis placed on the potential intersection with melanoma tumor biology. Abstract Melanin synthesis involves the successful coordination of metabolic pathways
Marelize Snyman, Rachel Elizabeth Walsdorf, Sophia Nicole Wix, Jennifer Gibson Gill   +3 more
wiley   +1 more source

Emerging therapeutic strategies for cystinosis

Frontiers in Pediatrics
For over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving
Paul Goodyer, Paul Goodyer, Elena Torban, Elena Torban   +3 more
doaj   +1 more source

Phenotypic variability in cystinosis: Lessons from an atypical case

Nefrología (English Edition)
Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra   +5 more
doaj   +1 more source