Results 51 to 60 of about 2,800 (183)

Altered mTOR signalling in nephropathic cystinosis [PDF]

, 2016
Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of ...
Pastore, Anna, Levtchenko, Elena, Ivanova, Ekaterina, van den Heuvel, Bert, Missiaen, Ludwig, Bultynck, Geert, De Smedt, Humbert, Mekahli, Djalila, Ibrahim, Mohamed   +8 more
core   +2 more sources

Improvement in the Renal Prognosis in Nephropathic Cystinosis [PDF]

Clinical Journal of the American Society of Nephrology, 2011
BACKGROUND AND OBJECTIVES: Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry.
Van Stralen, K J, Emma, F, Jager, K J, Verrina, E, Schaefer, F, Laube, G F, Lewis, M A, Levtchenko, E N   +7 more
openaire   +2 more sources

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas, Martha Gaviria, Luísa Malheiro, João Pedro Marques, Vincenzo Giordano, Hong Liang   +5 more
doaj   +1 more source

Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis

, 2022
The lysosomal storage disease cystinosis is caused by mutations in CTNS, encoding a cystine transporter, and in its severest form leads to proximal tubule dysfunction followed by kidney failure.
Paula Lewis (4542661), Robert 'Atiola (10997790), Sree Sreebhavan (1217271), Prasanna Kallingappa (1210452), Jennifer Hollywood (1197327), Pang Yuk Cheung (1210017), Brya Matthews (1185198), Alan Davidson (1181334), Aparajita Chatterjee (8579916), Emma Buckels (1190709), Renita Martis (1212855)   +10 more
core   +1 more source

Nephropathic cystinosis in Iraqi children

, 2006
Al-Mosawi AJ. Nephropathic cystinosis in Iraqi children. The New Iraqi Journal of Medicine (ISSN:1817-5562, 1998037X) 2006; 2(2) :22-25.
Al-Mosawi,Aamir
core   +1 more source

Nephropathic Cystinosis: A Distinct Form of CKD–Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

, 2020
Background The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown ...
Rachel I. Gafni, Katherine Wesseling-Perry, Carlos R. Ferreira, Luis Fernandez de Castro, Pablo Florenzano, Tella, Sri Harsha, Wesseling-Perry, Katherine, Barbara Gales, Roberts, Mary Scott, Isidro B. Salusky, Gales, Barbara, Harald Jüppner, Florenzano, Pablo, Wolf, Myles, Michael T. Collins, Jimenez, Macarena, Markovich, Daniela, Salusky, Isidro B., Daniela Markovich, Myles Wolf, Macarena Jimenez, Mary Scott Roberts, Fernandez de Castro, Luis, Gahl, William A., William A. Gahl, Ferreira, Carlos R., Sri Harsha Tella, Gafni, Rachel I., Collins, Michael T., Juppner, Harald, Galina Nesterova, Nesterova, Galina   +31 more
core   +1 more source

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

Eurasian Journal of Medicine, 2019
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak   +4 more
doaj   +1 more source

Improving the prognosis of nephropathic cystinosis

International Journal of Nephrology and Renovascular Disease, 2014
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated.
Besouw, Martine Tp, Levtchenko, Elena N
openaire   +5 more sources

CH‐π Supramolecular Functionalization of Carbon Nitride Microtubes With a Ru(bda) Coordination Oligomer for Boosting Oxidative Processes

Chemistry–Methods, Volume 6, Issue 10, October 2026.
Carbon nitride microtubes (C3N4‐MTs) have been functionalized with a Ru(bda) coordination oligomer via supramolecular CH–π interactions. The C3N4‐MTs exhibit enhanced visible‐light activity, improved charge separation, and superior performance in cysteamine sensing and water oxidation, highlighting a versatile route toward molecularly engineered ...
Júlia Prat, Eliana S. Da Silva, Paula Tris‐Marzo, Antoni Llobet, Marcos Gil‐Sepulcre, Jose Muñoz   +5 more
wiley   +1 more source

Perturbation of ATP6V0A1 as a driver and druggable target for renal proximal tubular cellular injury in nephropathic cystinosis

, 2022
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to develop new therapies to preserve renal function.
Pineda Sanjuan, Silvia, Sigdel, Tara K., Sarwal, Minnie M., Sansanwal, Poonam, Sur, Swastika, Kerwin, Maggie, Sirota, Marina   +6 more
core   +1 more source