Results 1 to 10 of about 6,103 (223)
S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model [PDF]
Antioxidants, 2021 Cystinuria, a rare inherited aminoaciduria condition, is characterized by the hyperexcretion of cystine, ornithine, lysine, and arginine. Its main clinical manifestation is cystine stone formation in the urinary tract, being responsible for 1–2% total ...
Miguel López de Heredia +8 more
doaj +4 more sources
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study [PDF]
International Journal of Molecular Sciences, 2023 More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting ...
Angerri, Oriol +14 more
core +5 more sources
Metabolic consequences of cystinuria [PDF]
BMC Nephrology, 2019 Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard +9 more
doaj +5 more sources
Digenic Inheritance in Cystinuria Mouse Model. [PDF]
PLoS ONE, 2015 Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Meritxell Espino +7 more
doaj +3 more sources
Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?
Animals, 2021 The purpose of this review is to summarize current knowledge on canine and feline cystinuria from available scientific reports. Cystinuria is an inherited metabolic defect characterized by abnormal intestinal and renal amino acid transport in which ...
Simona Kovaříková +2 more
doaj +2 more sources
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
doaj +2 more sources
Cystinuria: An Overview of Challenges and Surgical Management
Frontiers in Surgery, 2022 Cystinuria is a genetically inherited condition and a rare cause of kidney stones. It affects approximately 1 in 7,000 of the global population, although wide geographical variances exist (1).
Calum Stephen Clark +3 more
doaj +2 more sources
Redox Biology, 2023 The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease.
Clara Mayayo-Vallverdú +15 more
doaj +2 more sources
Nature Communications, 2022 Cystinuria is caused by mutations in heterodimeric amino acid transporter known as system b0,+. Here, authors discover that Ca2+ stabilizes the interface between two system b0,+ regulatory subunits rBAT, leading to super-dimerization of the b0,+AT–rBAT ...
Yongchan Lee +6 more
doaj +2 more sources
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter [PDF]
, 2006 Cystinuria is caused by the inherited defect of apical membrane transport systems for cystine and dibasic amino acids in renal proximal tubules. Mutations in either SLC7A9 or SLC3A1 gene result in cystinuria.
Ahmed, N. +14 more
core +2 more sources