25.11.2016 | Scientific Letter
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis
verfasst von:
Anup Arunrao Deshpande, Rajan Ravichandran, Anand Kumar Bachhawat
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 3/2017
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Excerpt
To the Editor: Cystinosis is a rare autosomal disorder, caused due to the malfunctioning of
CTNS (Cystinosin)
, a lysosomal protein responsible for the transport of cystine from the lysosome to the cytosol. Based on the clinical features, the disease can be classified into infantile, juvenile and ocular cystinosis. Functional analysis of mutations associated with these clinical forms suggests that a defective CTNS transporter leads to the accumulation of cystine and is one of the causes of the pathophysiology [
1]. …