Results 21 to 30 of about 1,567 (165)

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis [PDF]

Journal of Translational Medicine
Background Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio, Tjessa Bondue, Sarah Tassinari, Florian Siegerist, Angela Ferrulli, Celien Lismont, Sara Cairoli, Bianca Maria Goffredo, Bart Ghesquière, Marc Fransen, Nicole Endlich, Fanny Oliveira Arcolino, Benedetta Bussolati, Lambertus van den Heuvel, Elena Levtchenko   +14 more
doaj   +2 more sources

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants [PDF]

Advanced Biomedical Research
Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this
Zahra Mohammadi Chermahini, Mansoor Salehi, Alaleh Gheissari, Faeze Ahmadi Beni, Farinaz Khosravian, Mohammad Kazemi   +5 more
doaj   +2 more sources

Mutational spectrum of the CTNS gene in Italy [PDF]

European Journal of Human Genetics, 2003
Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread ...
Silvia Mason, Guglielmina Pepe, Roberto Dall’Amico, Sara Tartaglia, Stefania Casciani, Marcella Greco, Paola Bencivenga, Luisa Murer, Gianfranco Rizzoni, Romano Tenconi, Maurizio Clementi   +10 more
openalex   +6 more sources

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]

Frontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi, Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe   +13 more
doaj   +2 more sources

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells [PDF]

Laboratory Investigation, 2023
Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter. Disease-causing mutations lead to accumulation of cystine crystals in the lysosomes, thereby causing dysfunction of vital organs. Determination of the increased leukocyte cystine level is one
İpek Baysal, Samiye Yabanoğlu‐Çiftçi, Emirhan Nemutlu, Cemil Can Eylem, Elif Damla Gök-Topak, Kezban Ulubayram, Sedef Kır, Bora Gülhan, Gülberk Uçar, Fatih Özaltın, Rezan Topaloğlu   +10 more
openalex   +4 more sources

Transcriptional and Posttranscriptional Regulation of the CTNS Gene [PDF]

Pediatric Research, 2011
Cell cysteine (Cys) levels and/or the [Cys/CySS] redox potential have been shown to regulate mRNA levels of the CTNS gene, which encodes for a lysosomal cystine (CySS) carrier that is defective in cystinosis. To investigate the mechanisms involved CTNS mRNA regulation, different portions of the CTNS promotor were cloned into a luciferase vector and ...
Serena Corallini, Anna Taranta, Francesco Bellomo, Alessia Palma, Anna Pastore, Francesco Emma   +5 more
openalex   +3 more sources

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification [PDF]

Frontiers in Genetics
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Chen-Han Wilfred Wu, Chen-Han Wilfred Wu, Alicja Tomaszewski, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R. Schumaker   +7 more
doaj   +2 more sources

Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene

Medical Science and Discovery, 2022
Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), the most severe form of the disease and the most common cause of renal Fanconi syndrome (FS), starts with ...
Vaia Dokousli, Liana Fidani, Despoina Tramma, Athanasios Evangeliou, Maria Ziaka   +4 more
openalex   +3 more sources

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties [PDF]

, 2023
ABSTRACTCystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating ...
Ana A. Francisco, John J. Foxe, Alaina S. Berruti, Douwe J. Horsthuis, Sophie Molholm   +4 more
openalex   +3 more sources

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS [PDF]

Pediatric Research, 1999
Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene ...
Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine McDowel, Vorasuk Shotelersuk, Eric D. Green, William A. Gahl   +7 more
openalex   +2 more sources