Results 51 to 60 of about 6,358 (193)
Nefrología (English Edition), 2015 Introduction: Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment.
Gema Ariceta +15 more
doaj +1 more source
Targeting Lysosomal Thiols for Immunogenic Cancer Cell Death
Angewandte Chemie, Volume 137, Issue 5, January 27, 2025.We described reversible thiol binder 11, which accumulates in lysosomes of cancer cells, increases the level of ROS leading to their disruption and immunogenic cancer cell death. In murine sarcoma Nemeth‐Kellner model, 11 extends the lifespan of the mice from 21 to 85 days and cures 40 % of mice.
Anton Arkhypov +6 more
wiley +2 more sources
Cystinosis — a review of disease pathogenesis, management, and future treatment options
Journal of Rare DiseasesCystinosis is a rare autosomal recessive disease characterised by an accumulation of cystine in the lysosomes. It is caused by pathogenic variants of the cystinosin gene ( CTNS ), which interrupts the transport of cystine from the lysosomes into the ...
Lauren Devitt
semanticscholar +1 more source
Middle East Current Psychiatry, 2022 Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia +3 more
doaj +1 more source
Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
Cells, 2021 Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine
S. Cherqui
semanticscholar +1 more source
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
In Vitro and In Vivo Models to Study Nephropathic Cystinosis
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 more
doaj +1 more source
Aging Cell, Volume 24, Issue 5, May 2025.Tgm2 is highly expressed in senescent microglia. The Tgm2‐NF‐κB‐SASP loop facilitates senescence in microglia. Tgm2‐catalyzed covalent crosslinking of IκBα at K22 and Q248 in the cytoplasm of senescent microglia leads to a reduction in IκBα levels and NF‐κB nuclear translocation.
Zhiqiang Li +12 more
wiley +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2021 Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Inflammatory cytokines such as interleukin (IL)‐1 trigger inflammatory cascades and may be an important ...
W. Cheung +7 more
semanticscholar +1 more source
Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova +3 more
wiley +1 more source