Results 81 to 90 of about 5,436 (204)

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

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

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

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source

Nephropathic cystinosis in Poland: a 40-year retrospective study.

Polish Archives of Internal Medicine, 2022
INTRODUCTION Nephropathic cystinosis (NC) is a rare, AR disorder leading to lysosomal accumulation of cystine. It is caused by mutations in the CTNS gene encoding the cystine co-transporter cystinosin.
P. Sikora, R. Grenda, M. Kowalczyk, B. Kieć-Wilk, B. Bieniaś, J. Rubik, M. Szymczak, Hanna Nosek, Paulina Surowiec, T. Marquardt, B. Beck, M. Zaniew   +11 more
semanticscholar   +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

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

Clinical features of nephropathic cystinosis in adult patients

Clinical pharmacology and therapy
To evaluate clinical signs and symptoms of nephropathic cystinosis in adult patients.
N. Chebotareva, A. Tsygin, E. Tao, V. Maltseva, K. Savostyanov, A. Pushkov, A. Moiseev, N. Bulanov, S. Moiseev   +8 more
semanticscholar   +1 more source

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities.
I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers   +17 more
wiley   +1 more source

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +3 more sources