Results 61 to 70 of about 2,360 (185)

Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]

, 2012
Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine, Cornelissen, Elisabeth, Levtchenko, Elena, Rioux, Patrice, Tangerman, Albert   +4 more
core   +1 more source

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source

Oxidative Stress in Cystinosis Patients [PDF]

, 2011
Background/Aims: Nephropathic cystinosis (NC) is a severe systemic disease and cysteamine improves its prognosis. Lysosomal cystine accumulation is the hallmark of cystinosis and is regarded as the primary defect due to mutations in the CTNS gene ...
Pache de Faria Guimaraes, Luciana, Seguro, Antonio Carlos, Shimizu, Maria Heloisa Mazzola, Vaisbich, Maria Helena   +3 more
core   +3 more sources

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population [PDF]

, 2018
Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
Carmo Macário, Maria do, Carmona, Célia, Costa, Teresa, Ferreira, Filipa, Gomes, Ana Marta, Leal, Inês, Lopes, Daniela, Magriço, Rita, Marcão, Ana, Mota, Conceição, Neiva, Raquel, Oliveira, João Paulo, Pinto, Helena, Ramos, Sónia, Sousa, David, Tavares, Isabel, Vilarinho, Laura   +16 more
core   +1 more source

Low density lipoprotein oxidation by ferritin at lysosomal pH [PDF]

, 2018
Oxidation of low density lipoprotein (LDL) has been proposed to be involved in the pathogenesis of atherosclerosis. We have previously shown that LDL can be oxidised by iron in lysosomes.
Leake, David S., Ojo, Oluwatosin O.
core   +1 more source

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

EMBO Molecular Medicine, 2021
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
Amer Jamalpoor, Charlotte AGH van Gelder, Fjodor A Yousef Yengej, Esther A Zaal, Sante P Berlingerio, Koenraad R Veys, Carla Pou Casellas, Koen Voskuil, Khaled Essa, Carola ME Ammerlaan, Laura Rita Rega, Reini EN van der Welle, Marc R Lilien, Maarten B Rookmaaker, Hans Clevers, Judith Klumperman, Elena Levtchenko, Celia R Berkers, Marianne C Verhaar, Maarten Altelaar, Rosalinde Masereeuw, Manoe J Janssen   +21 more
doaj   +1 more source

Mutational spectrum of cystinosis in Portugal, 1998-2017 [PDF]

, 2019
Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100.
Carmona, Célia, Costa, Teresa, Ferreira, Filipa, Gomes, Ana Marta, Leal, Inês, Lopes, Daniela, Macário, Maria do Carmo, Magriço, Rita, Marcão, Ana, Mota, Conceição, Neiva, Raquel,, Oliveira, João Paulo, Pinto, Helena, Ramos, Sónia, Sousa, David, Tavares, Isabel, Vilarinho, Laura   +16 more
core  

Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature [PDF]

, 2008
Introduction Cystinosis is a hereditary storage disease resulting in intracellular accumulation of cystine and crystal formation that causes deterioration of the function of many organs.
AJ Jonas, Andrea Baumeier, BC Sonies, BC Sonies, C Humphrey, EB Ringelstein, GS Harper, IW Husstedt, JG Thoene, JK Fink, JM Geelen, LR Charnas, M Broyer, Marcus Müller, S Levine, U Vester, WA Gahl, WA Gahl, WA Gahl   +18 more
core   +3 more sources

Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists

Clinical and Translational Science, Volume 18, Issue 4, April 2025.
ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed, Bilal AbuAsal, Jeffrey S. Barrett, Karim Azer, Yuen Yi Hon, Salwa Albusaysi, Elizabeth Shang, Meng Wang, Maria Burian, Noha Rayad   +9 more
wiley   +1 more source

mRNA therapy: A new frontier in regenerative medicine

Interdisciplinary Medicine, Volume 3, Issue 2, March 2025.
This review discussed the potential of mRNA drugs in regenearative medicine, highlighting the key processes of mRNA therapy, focusing on therapeutic mRNA modification and delivery carriers. The preclinical and clinical studies of mRNA therapeutics for regeneration of cardiac, lung, liver, kidney, locomotor system, skin lesions and neurological ...
Ding‐Ding Xue, Yue Zhang, An‐Ran Shen, Tao‐Tao Tang, Bi‐Cheng Liu, Lin‐Li Lv   +5 more
wiley   +1 more source