Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations). [PDF]
Orphanet J Rare Dis, 2023 Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain.
Horsthuis DJ +3 more
europepmc +3 more sources
Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies
Cells, 2022 The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem +2 more
doaj +2 more sources
Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2023 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt +3 more
doaj +2 more sources
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 +15 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2023 Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako +4 more
doaj +2 more sources
Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis. [PDF]
Autophagy RepRAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Ait Kbaich M, Johnson JL, Catz SD.
europepmc +2 more sources
A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients. [PDF]
Pharmaceuticals (Basel)Cystinosis is a rare lysosomal storage disorder caused by autosomal recessive mutations in the CTNS gene that encodes for the cystine transporter cystinosin, which is expressed on the lysosomal membrane mediating the efflux of cystine.
Simeoli R +8 more
europepmc +2 more sources
Cystinosis and two rare mutations in CTNS gene: two case reports
Journal of Medical Case Reports, 2022 Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi +2 more
doaj +2 more sources
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging
Cells, 2022 Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients.
Aude Servais +4 more
doaj +2 more sources
Newborn Screening: Review of its Impact for Cystinosis
Cells, 2022 Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner +5 more
doaj +2 more sources