A futile cycle, formed between two ATP-dependant γ-glutamyl cycle enzymes, γ-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis? [PDF]
, 2010 Cystinosis, an inherited disease caused by a defect in the lysosomal cystine transporter (CTNS), is characterized by renal proximal tubular dysfunction.
Bachhawat, Anand Kumar, Kumar, Akhilesh
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Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7
Protein Science, Volume 33, Issue 10, October 2024.Abstract Jumonji‐C (JmjC) domain‐containing protein 7 (JMJD7) is a human Fe(II) and 2‐oxoglutarate dependent oxygenase that catalyzes stereospecific C3‐hydroxylation of lysyl‐residues in developmentally regulated GTP binding proteins 1 and 2 (DRG1/2). We report studies exploring a diverse set of lysine derivatives incorporated into the DRG1 peptides as
Nurgül Bilgin +8 more
wiley +1 more source
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients
Orphanet Journal of Rare Diseases, 2011 Background Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes.
Bouazza Naïm +7 more
doaj +1 more source
Urine-Derived Kidney Progenitor Cells in Cystinosis
Cells, 2022 Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys +15 more
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Luteolin: A promising multifunctional natural flavonoid for human diseases
Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu +9 more
wiley +1 more source
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
, 2019 BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina +8 more
core
Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco +7 more
wiley +1 more source
A case of corneal cystinosis in a patient with rickets and chronic renal failure
Indian Journal of Ophthalmology, 2015 A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity.
Jae Yon Won +2 more
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Pulmonary dysfunction in children with Cystinosis: single center study, original article
Egyptian Pediatric Association Gazette, 2022 Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed +4 more
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Intravenous Cysteamine Therapy for Nephropathic Cystinosis [PDF]
Pediatric Research, 1995 A 4-y-old boy with nephropathic cystinosis and gastrointestinal dysmotility of unknown etiology was treated with i.v. cysteamine over a period of 10 mo. Thirty minutes after a dose of 10 mg/kg cysteamine free base, the leukocyte cystine value had fallen from 11.9 to 4.9 nmol of half-cystine/mg of protein.
W A, Gahl +5 more
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