Results 11 to 20 of about 7,801 (251)

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

Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis [PDF]

Autophagy Reports
RAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Mouad Ait Kbaich, Jennifer L. Johnson, Sergio D. Catz   +2 more
doaj   +2 more sources

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +2 more sources

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]

Orphanet Journal of Rare Diseases
Background Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially through progressive kidney and eye ...
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer   +7 more
doaj   +2 more sources

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]

ACS Pharmacol Transl Sci
Carneiro A, Jones DH.
europepmc   +2 more sources

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

Drugs in 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 ...
Gema Ariceta, Simón Lalanza, Catalina Peña, Marta Martínez Montero, Carlos Bezos Daleske, Laura Acuña Álvarez, Elisa Giner   +6 more
doaj   +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.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 more
doaj   +2 more sources

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads. [PDF]

Int J Mol Sci
Bellomo F, De Rasmo D.
europepmc   +3 more sources

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
europepmc   +2 more sources

A Personal History of Cystinosis by Dr. Jerry Schneider

Cells, 2022
Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
doaj   +1 more source