Results 51 to 60 of about 459 (116)

Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A

Journal of Biological Chemistry, 2017
The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure, and progressive renal injury despite cystine-depletion therapies. Cystinosis is associated with defects in chaperone-mediated
Jinzhong Zhang, J. Johnson, Jing He, G. Napolitano, Mahalakshmi Ramadass, C. Rocca, W. Kiosses, C. Bucci, Qisheng Xin, E. Gavathiotis, A. Cuervo, S. Cherqui, S. Catz   +12 more
semanticscholar   +1 more source

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin [PDF]

Human Molecular Genetics, 1999
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction. Late-onset cystinosis, a rarer form of the disorder, is characterized by onset of symptoms between 12 and 15 years of age.
M, Attard, G, Jean, L, Forestier, S, Cherqui, W, van't Hoff, M, Broyer, C, Antignac, M, Town   +7 more
openaire   +2 more sources

Development of a fibrin-mediated gene delivery system for the treatment of cystinosis via design of experiment

Scientific Reports, 2022
Cystinosis is a rare disease, caused by a mutation in the gene cystinosin and characterised by the accumulation of cystine crystals. Advantages of biomaterial-mediated gene delivery include reduced safety concerns and the possibility to cure organs that ...
Valeria Graceffa
doaj   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz   +7 more
doaj   +1 more source

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia

Cells, 2021
Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez, Wai W. Cheung, Elliot A. Perens, Eduardo A. Oliveira, Arieh Gertler, Robert H. Mak   +5 more
doaj   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, Volume 600, Issue 13, Page 1859-1871, July 2026.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)*

Molecular & Cellular Proteomics, 2017
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by intralysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter ...
N. Névo, Lucie Thomas, C. Chhuon, Zuzanna Andrzejewska, J. Lipecka, F. Guillonneau, A. Bailleux, A. Edelman, C. Antignac, I. Guerrera   +9 more
semanticscholar   +1 more source