Results 11 to 20 of about 6,358 (193)

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

J Transl Med
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.
Berlingerio SP, Bondue T, Tassinari S, Siegerist F, Ferrulli A, Lismont C, Cairoli S, Goffredo BM, Ghesquière B, Fransen M, Endlich N, Oliveira Arcolino F, Bussolati B, van den Heuvel L, Levtchenko E.   +14 more
europepmc   +2 more sources

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Orphanet Journal of Rare Diseases, 2021
Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm   +4 more
doaj   +2 more sources

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]

JIMD Rep
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Taj R, Ng K, Cuddapah SR, Rand EB, Bleicher M, Amaral S, Hoteit MA, Reddy RK, Feyssa E, Furth EE, Olthoff KM, Abu-Gazala S, Levine MH, Vyas F, Abt PL.   +14 more
europepmc   +2 more sources

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. [PDF]

Pediatr Nephrol
Gastrointestinal (GI) sequelae, such as vomiting, hyperacidity, dysphagia, dysmotility, and diarrhea, are nearly universal among patients with nephropathic cystinosis.
Joseph MW, Stein DR, Stein AC.
europepmc   +2 more sources

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

Front Immunol
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Rossi MN, Matteo V, Diomedi-Camassei F, De Leo E, Devuyst O, Lamkanfi M, Caiello I, Loricchio E, Bellomo F, Taranta A, Emma F, De Benedetti F, Prencipe G.   +12 more
europepmc   +2 more sources

Intermediate cystinosis: a case report of 10-year treatment with cysteamine. [PDF]

BMC Nephrol
Background Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Kawamura M, Katagiri D, Yamamoto Y, Shimada K, Higashi S, Otani M, Uesugi N, Takano H, Shimizu Y, Okamura T.   +9 more
europepmc   +2 more sources

Novel mechanism for tubular injury in nephropathic cystinosis. [PDF]

Elife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 more
europepmc   +2 more sources

Patient journey in cystinosis: focus on non-adherence and disease management. [PDF]

Drugs Context
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Ariceta G, Lalanza S, Peña C, Martínez Montero M, Bezos Daleske C, Acuña Álvarez L, Giner E.   +6 more
europepmc   +2 more sources

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc   +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   +2 more sources