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• W2565280039 startingPage "115" @default.
• W2565280039 abstract "One of the first manifestations of cystinosis is a renal Fanconi syndrome, characterized by severe dysfunction of proximal tubule cells. This Review describes the pathogenesis of renal Fanconi syndrome in cystinosis, focusing on the importance of cystinosin in the maintenance of cellular homeostasis beyond its function in cystine transport. Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, a renal Fanconi syndrome is often the first manifestation of cystinosis, usually presenting within the first year of life and characterized by the early and severe dysfunction of proximal tubule cells, highlighting the unique vulnerability of this cell type. The current therapy for cystinosis, cysteamine, facilitates lysosomal cystine clearance and greatly delays progression to kidney failure but is unable to correct the Fanconi syndrome. This Review summarizes decades of studies that have fostered a better understanding of the pathogenesis of the renal Fanconi syndrome associated with cystinosis. These studies have unraveled some of the early molecular changes that occur before the onset of tubular atrophy and identified a role for cystinosin beyond cystine transport, in endolysosomal trafficking and proteolysis, lysosomal clearance, autophagy and the regulation of energy balance. These studies have also led to the identification of new potential therapeutic targets and here, we outline the potential role of stem cell therapy for cystinosis and provide insights into the mechanism of haematopoietic stem cell-mediated kidney protection." @default.
• W2565280039 created "2017-01-06" @default.
• W2565280039 creator A5062133346 @default.
• W2565280039 creator A5077055662 @default.
• W2565280039 date "2016-12-19" @default.
• W2565280039 modified "2023-10-18" @default.
• W2565280039 title "The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives" @default.
• W2565280039 cites W1504778956 @default.
• W2565280039 cites W152692116 @default.
• W2565280039 cites W1543023552 @default.
• W2565280039 cites W1559233066 @default.
• W2565280039 cites W1575055466 @default.
• W2565280039 cites W1587582951 @default.
• W2565280039 cites W1596891714 @default.
• W2565280039 cites W1599937756 @default.
• W2565280039 cites W1607485899 @default.
• W2565280039 cites W161657894 @default.
• W2565280039 cites W1621919167 @default.
• W2565280039 cites W1706671600 @default.
• W2565280039 cites W1823765579 @default.
• W2565280039 cites W1835419381 @default.
• W2565280039 cites W1861801554 @default.
• W2565280039 cites W1900339045 @default.
• W2565280039 cites W1910020517 @default.
• W2565280039 cites W1915211640 @default.
• W2565280039 cites W1963736118 @default.
• W2565280039 cites W1964071888 @default.
• W2565280039 cites W1964819412 @default.
• W2565280039 cites W1970374191 @default.
• W2565280039 cites W1970661950 @default.
• W2565280039 cites W1971818968 @default.
• W2565280039 cites W1973492358 @default.
• W2565280039 cites W1974030114 @default.
• W2565280039 cites W1976348649 @default.
• W2565280039 cites W1977622544 @default.
• W2565280039 cites W1983215708 @default.
• W2565280039 cites W1984314492 @default.
• W2565280039 cites W1986958627 @default.
• W2565280039 cites W1987791821 @default.
• W2565280039 cites W1987828394 @default.
• W2565280039 cites W1990960113 @default.
• W2565280039 cites W1993758498 @default.
• W2565280039 cites W1993994771 @default.
• W2565280039 cites W1994599588 @default.
• W2565280039 cites W1997733349 @default.
• W2565280039 cites W1999044836 @default.
• W2565280039 cites W2001085770 @default.
• W2565280039 cites W2007182393 @default.
• W2565280039 cites W2007889259 @default.
• W2565280039 cites W2011313278 @default.
• W2565280039 cites W2013629587 @default.
• W2565280039 cites W2017112348 @default.
• W2565280039 cites W2018621678 @default.
• W2565280039 cites W2018662791 @default.
• W2565280039 cites W2021561456 @default.
• W2565280039 cites W2021919397 @default.
• W2565280039 cites W2022716167 @default.
• W2565280039 cites W2023084703 @default.
• W2565280039 cites W2023468367 @default.
• W2565280039 cites W2024758067 @default.
• W2565280039 cites W2024988035 @default.
• W2565280039 cites W2025325512 @default.
• W2565280039 cites W2026843047 @default.
• W2565280039 cites W2027785297 @default.
• W2565280039 cites W2028650329 @default.
• W2565280039 cites W2029870086 @default.
• W2565280039 cites W2030466379 @default.
• W2565280039 cites W2030610074 @default.
• W2565280039 cites W2030910807 @default.
• W2565280039 cites W2033198910 @default.
• W2565280039 cites W2035774489 @default.
• W2565280039 cites W2037072360 @default.
• W2565280039 cites W2038497619 @default.
• W2565280039 cites W2040873954 @default.
• W2565280039 cites W2042029593 @default.
• W2565280039 cites W2043219564 @default.
• W2565280039 cites W2043682095 @default.
• W2565280039 cites W2044374226 @default.
• W2565280039 cites W2046392153 @default.
• W2565280039 cites W2047248474 @default.
• W2565280039 cites W2048475659 @default.
• W2565280039 cites W2051592233 @default.
• W2565280039 cites W2054121408 @default.
• W2565280039 cites W2054395618 @default.
• W2565280039 cites W2055335510 @default.
• W2565280039 cites W2057030791 @default.
• W2565280039 cites W2058230257 @default.
• W2565280039 cites W2059716825 @default.
• W2565280039 cites W2060107889 @default.
• W2565280039 cites W2064986633 @default.
• W2565280039 cites W2066831967 @default.
• W2565280039 cites W2067291352 @default.
• W2565280039 cites W2067918855 @default.
• W2565280039 cites W2069074193 @default.
• W2565280039 cites W2070432059 @default.
• W2565280039 cites W2070889602 @default.
• W2565280039 cites W2071218537 @default.
• W2565280039 cites W2071398645 @default.

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