CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Human Pathology Reports, 2022 We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen +8 more
doaj +1 more source
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]
, 2017 Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne +5 more
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Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene
Medical Science and Discovery, 2022 Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS.
Vaia Dokousli +4 more
semanticscholar +1 more source
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
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]
, 2018 We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr +6 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
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
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]
, 2018 Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia +6 more
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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
doaj +1 more source