Results 81 to 90 of about 2,360 (185)

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

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]

, 2017
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne, Devuyst, Olivier, Luciani, Alessandro, Nevo, Nathalie, Raggi, Claudia, Terryn, Sara   +5 more
core  

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)

International Journal of Nephrology, Volume 2025, Issue 1, 2025.
Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi, Watfa Al Dhaheri, Niaz Ahmad, Muhammad Badar Zaman, Eihab Al Khasawneh, Tej Mattoo   +5 more
wiley   +1 more source

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients

Orphanet Journal of Rare Diseases, 2011
Background Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes.
Bouazza Naïm, Tréluyer Jean-Marc, Ottolenghi Chris, Urien Saik, Deschenes Georges, Ricquier Daniel, Niaudet Patrick, Chadefaux-Vekemans Bernadette   +7 more
doaj   +1 more source

Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]

, 2018
We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr, Hargreaves, Iain, Heales, Simon, Laube, Guido, Shah, Vanita, Stewart, Victoria, van't Hoff, William   +6 more
core  

Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7

Protein Science, Volume 33, Issue 10, October 2024.
Abstract Jumonji‐C (JmjC) domain‐containing protein 7 (JMJD7) is a human Fe(II) and 2‐oxoglutarate dependent oxygenase that catalyzes stereospecific C3‐hydroxylation of lysyl‐residues in developmentally regulated GTP binding proteins 1 and 2 (DRG1/2). We report studies exploring a diverse set of lysine derivatives incorporated into the DRG1 peptides as
Nurgül Bilgin, Anthony Tumber, Siddhant Dhingra, Eidarus Salah, Aziza Al‐Salmy, Sandra Pinzón Martín, Yicheng Wang, Christopher J. Schofield, Jasmin Mecinović   +8 more
wiley   +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

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]

, 2018
Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia, Huisman, Thierry, Landolt, Markus, Latal, Bea, Laube, Guido, Neuhaus, Thomas, Ulmer, Francis   +6 more
core  

Neurological impairment in nephropathic cystinosis: motor coordination deficits [PDF]

, 2010
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein.
Ballantyne, Angela O., Crowhurst, Jennifer, Hesselink, John, Spilkin, Amy M., Trauner, Doris A., Williams, Jennifer   +5 more
core   +2 more sources

Luteolin: A promising multifunctional natural flavonoid for human diseases

Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.
Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu, Yanping Sun, Yang Su, Wei Guan, Yu Wang, Jianwei Han, Shuang Wang, Bingyou Yang, Qiuhong Wang, Haixue Kuang   +9 more
wiley   +1 more source