Results 81 to 90 of about 2,800 (183)

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

Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis [PDF]

, 2020
Background Mutations in the gene that encodes the lysosomal cystine transporter cystinosin cause the lysosomal storage disease cystinosis. Defective cystine transport leads to intralysosomal accumulation and crystallization of cystine.
Elena Levtchenko, Bellomo, Francesco, Manoe Jacoba Janssen, Bianca Maria Goffredo, Cairoli, Sara, Berquez, Marine, Masereeuw, Rosalinde, Roberto Raso, Rega, Laura Rita; https://orcid.org/, Olivier Devuyst, Festa, Beatrice Paola, Raso, Roberto, Emma, Francesco, Francesco Emma, De Leo, Ester, Laura Rita Rega, Rega, Laura Rita, Elmonem, Mohamed A; https://orcid.org/, Francesco Bellomo, Devuyst, Olivier, Lowe, Martin; id_orcid, Starborg, Tobias, Marine Berquez, Janssen, Manoe Jacoba, Mohamed A. Elmonem, Abbaszadeh, Zeinab, Alessandro Luciani, Zeinab Abbaszadeh, Pharmacology, Beatrice Paola Festa, Sante Princiero Berlingerio, Goffredo, Bianca Maria, Elmonem, Mohamed A., Berlingerio, Sante Princiero, Sara Cairoli, Levtchenko, Elena, Tobias Starborg, Afd Pharmacology, Devuyst, Olivier; https://orcid.org/, Lowe, Martin, Luciani, Alessandro, Rosalinde Masereeuw, Ester De Leo, Martin Lowe   +43 more
core   +2 more sources

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Nature Communications, 2018
Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative ...
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani   +12 more
doaj   +1 more source

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India [PDF]

Childhood Kidney Diseases
Cystinosis is a rare autosomal recessive lysosomal storage disorder with an incidence of approximately 1 in 100,000 to 200,000 live births. It is the most common cause of inherited pediatric Fanconi syndrome (FS).
Lubna K. P., Rehna K. Rahman, Preetha Remesh, Manjula Anand, Nirmal Jayadevan, Divya Pachat   +5 more
doaj   +1 more source

Hirschsprung′s disease with infantile nephropathic cystinosis

Journal of Indian Association of Pediatric Surgeons, 2015
The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.
Mittal, Deepak, Bagga, Arvind, Tandon, Radhika, Sharma, Mehar Chand, Bhatnagar, Veereshwar   +4 more
openaire   +2 more sources

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

, 2014
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes.
Levtchenko, Elena, Soliman, Neveen A., van den Heuvel, Bert, Gamal, Mohamed, Bongaers, Inge, Abdel Hamid, Rehab H., Ibrahim, Mohamed, Marie, Sandrine   +7 more
core   +1 more source

Clinical perspectives on myopathic complications in nephropathic cystinosis

Journal of Rare Diseases
Patients with nephropathic cystinosis are now living into their 50s and beyond thanks to advances in medical management. Due to this shift in the natural history of the disease, monitoring for and addressing extrarenal manifestations, including myopathy,
Reza Sadjadi, Cybele Ghossein, Ewa Elenberg   +2 more
doaj   +1 more source

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

, 2014
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 dysfunction that progresses, if untreated, to end-stage renal
Raggi, Claudia, Devuyst, Olivier, Luciani, Alessandro, Antignac, Corinne, Terryn, Sara, Nevo, Nathalie   +5 more
core   +1 more source

Nephropathic Cystinosis Mimicking Bartter Syndrome A Novel Mutation

, 2018
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene.
Korkmaz, Emine, ÖZALTIN, FATİH, Yel, Sibel, Nalcacioglu, Hulya, Bastug, Funda   +4 more
core  

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source