Results 101 to 110 of about 459 (116)
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Distribution of cystinosin-LKG in human tissues
Histochemistry and Cell Biology, 2012Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal cystine co-transporter cystinosin, and for a less abundant isoform termed cystinosin-LKG, which is expressed in not only lysosomes but also other cell compartments.
Anna, Taranta +7 more
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Cystinosin is a melanosomal protein that regulates melanin synthesis
The FASEB Journal, 2012Cystinosis is a rare autosomal recessive disease characterized by cystine crystal accumulation leading to multiorgan dysfunctions and caused by mutation in CTNS. CTNS encodes cystinosin, a cystine/H + symporter that exports cystine out of the lysosomes.
Christine, Chiaverini +17 more
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Structural and mechanical insights into cystinosin
Nature Structural & Molecular Biology, 2022T. Thomas
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Structural basis for proton coupled cystine transport by cystinosin
Biophysical Journal, 2023 S. Newstead
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Current Biotechnology, 2023
Background: Cystinosis is a rare inherited lysosomal storage disease (LSD), caused by a mutation in the Cystinosin Lysosomal Cystine Transporter (CTNS). Novel therapies and strategies are needed to improve patients' clinical conditions and quality of life.
V. Graceffa
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Background: Cystinosis is a rare inherited lysosomal storage disease (LSD), caused by a mutation in the Cystinosin Lysosomal Cystine Transporter (CTNS). Novel therapies and strategies are needed to improve patients' clinical conditions and quality of life.
V. Graceffa
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Cystinosin deficiency affects bone phenotype
Bone Abstracts, 2017Giulia Battafarano +5 more
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Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis
American Journal of Physiology-Renal Physiology, 2022Animal models of disease are essential to perform preclinical testing of new therapies before they can progress to clinical trials. The cystinosis field has been hampered by a lack of suitable animal models that fully recapitulate the disease. Here, we generated a rat model of cystinosis that closely models the human condition in a timeframe that makes
Jennifer A. Hollywood +10 more
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Microvesicle-mediated delivery of cystinosin to rabbit cornea
Molecular Genetics and Metabolism, 2017Jess G Thoene, Jodi Mullet
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bioRxiv
Cystinosis is a systemic lysosomal storage disease resulting from a defective CTNS gene, leading to the accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, the renal Fanconi syndrome (FS) is the first manifestation of ...
Veenita Khare +12 more
semanticscholar +1 more source
Cystinosis is a systemic lysosomal storage disease resulting from a defective CTNS gene, leading to the accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, the renal Fanconi syndrome (FS) is the first manifestation of ...
Veenita Khare +12 more
semanticscholar +1 more source
Study of the lysosomal trafficking of cystinosin and its role in the mTORC1 pathway
Pas de titre en français La cystinose (MIM 21980) est une maladie de surcharge lysosomale héréditaire rare caractérisée par un efflux défectueux de cystine hors des lysosomes. Le gène impliqué dans la cystinose code pour une protéine transmembranaire lysosomale, la cystinosine, qui fonctionne comme un co-transporteur de cystine et de ...openaire +1 more source