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article, pubmed, google, scholar, cas, cystinosis, cystinosinlkg, taranta, levtchenko, expression, cystinosin, research, emma, gene, protein, biol, cell, bellomo, nephropathic, cystine, antignac, privacy, cookies, content, corallini, francesco, ctns, renal, gahl, cherqui, kalatzis, author, department, publish, search, human, tissues, anna, petrini, elena, lysosomal, cells, access, membrane, defective, physiol, nephrology, bambino, gesù, childrens,

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month download article/chapter renal tubular cells related subjects cytoplasmic coiled-coil domain isolated lysosome-rich fractions 20-year single-center experience epithelial cells author information authors francesco bellomo cystinosis research network full article pdf cystinosis research foundation privacy choices/manage cookies wilmer mj author correspondence cystinotic leucocytes integral membrane protein lysosomal membrane requires long-term outcome cystinosin-lkg antiserum intralysosomal cystine accumulation golgi ribbon formation cell biology aims article histochemistry ctns-lkg represents 5–20 % mice lacking cystinosin european economic area high-quality antibodies lkg isoform observed gastro-intestinal tract check access decreases apoptosis rate species-specific difference tyrosine-based signal rab effector required grant agreement 1801110n bambino gesù children electronic supplementary material normal human heart tyroid gland showed instant access conditions privacy policy article taranta defective cystine exodus s1 weak expression article log accepting optional cookies renata boldrini university hospitals leuven catholic university leuven

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         headline:Distribution of cystinosin-LKG in human tissues
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         datePublished:2012-04-29T00:00:00Z
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            Cystinosin-LKG
            Biomedicine
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      headline:Distribution of cystinosin-LKG in human tissues
      description:Nephropathic 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. To overcome the absence of high-quality antibodies against cystinosin, we have obtained a rabbit antiserum against cystinosin-LKG and have analyzed in human tissues the expression of the two known cystinosin isoforms by RT-PCR, and the expression of cystinosin-LKG by immunohistochemistry. In most tissues, CTNS-LKG represents 5–20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. Cystinosin-LKG was found to be highly expressed in renal tubular cells, pancreatic islets of Langerhans, Leydig cells of the testis, mucoserous glands of the bronchial wall, melanocytes and keratinocytes. These results are parallel with many features of cystinosis, such as early onset Fanconi syndrome, male infertility, diabetes mellitus and hypopigmentation. Intermediate expression levels were of the LKG isoform observed in the gastro-intestinal tract and thyroid glands; low levels of expression were observed in the brain, skeletal and cardiac muscles.
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         Biochemistry
         Developmental Biology
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