Results 21 to 30 of about 6,358 (193)

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder. [PDF]

J Cachexia Sarcopenia Muscle
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.
Cheung WW, Zhou P, Zheng R, Gertler A, Oliveira EA, Mak RH.   +5 more
europepmc   +2 more sources

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

EMBO Molecular Medicine, 2021
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
Amer Jamalpoor, Charlotte AGH van Gelder, Fjodor A Yousef Yengej, Esther A Zaal, Sante P Berlingerio, Koenraad R Veys, Carla Pou Casellas, Koen Voskuil, Khaled Essa, Carola ME Ammerlaan, Laura Rita Rega, Reini EN van der Welle, Marc R Lilien, Maarten B Rookmaaker, Hans Clevers, Judith Klumperman, Elena Levtchenko, Celia R Berkers, Marianne C Verhaar, Maarten Altelaar, Rosalinde Masereeuw, Manoe J Janssen   +21 more
doaj   +2 more sources

Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience. [PDF]

Ital J Pediatr
Background Nephropathic Cystinosis is a rare autosomal recessive lysosomal storage disorder. In addition to kidney dysfunction, this disorder can also affect other organs, such as the eyes, thyroid, muscles, and central nervous system.
Helmy R, Atia FM, Soliman NA.
europepmc   +2 more sources

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis. [PDF]

Orphanet J Rare Dis
There are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
González K, Eixarch T, Nuñez L, Ariceta G.   +3 more
europepmc   +2 more sources

A Personal History of Cystinosis by Dr. Jerry Schneider

Cells, 2022
Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
doaj   +1 more source

The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis

Autophagy, 2023
Differentiation and fate decisions are critical for the epithelial cells lining the proximal tubule (PT) of the kidney, but the signals involved remain unknown.
A. Luciani, O. Devuyst
semanticscholar   +1 more source

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients

Pharmaceutics, 2023
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from the
Sabrina Klank, C. van Stein, M. Grüneberg, C. Ottolenghi, Kerstin K. Rauwolf, Jürgen Grebe, J. Reunert, E. Harms, T. Marquardt   +8 more
semanticscholar   +1 more source

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

Scientific Reports, 2023
Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns ^−/− zebrafish ...
Tjessa Bondue, S. P. Berlingerio, F. Siegerist, Elena Sendino-Garví, Maximilian Schindler, H. Baelde, S. Cairoli, B. Goffredo, F. Arcolino, Jürgen Dieker, M. Janssen, N. Endlich, Roland Brock, Rik Gijsbers, L. van den Heuvel, E. Levtchenko   +15 more
semanticscholar   +1 more source

[Cystinosis: From the gene identification to the first gene therapy clinical trial].

Medecine sciences : M/S, 2023
Cystinosis is an autosomal recessive metabolic disease characterized by lysosomal accumulation of cystine in all the cells of the body. Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure ...
S. Cherqui
semanticscholar   +1 more source

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

Journal of Clinical Investigation, 2023
Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin.
Varsha Venkatarangan, Weichao Zhang, Xi Yang, J. Thoene, S. Hahn, Ming Li   +5 more
semanticscholar   +1 more source