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- W2160081421 abstract "Niemann–Pick type C disease (NPC) is a sphingolipid-storage disorder that results from inherited deficiencies of intracellular lipid-trafficking proteins, and is characterised by an accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes. Patients with this disorder develop progressive neurological impairment that often begins in childhood, is ultimately fatal and is currently untreatable. How impaired lipid trafficking leads to neurodegeneration is largely unknown. Here we review NPC clinical features and biochemical defects, and discuss model systems used to study this disorder. Recent studies have established that NPC is associated with an induction of autophagy, a regulated and evolutionarily conserved process by which cytoplasmic proteins are sequestered within autophagosomes and targeted for degradation. This pathway enables recycling of limited or damaged macromolecules to promote cell survival. However, in other instances, robust activation of autophagy leads to cell stress and programmed cell death. We summarise evidence showing that autophagy induction and flux are increased in NPC by signalling through a complex of the class III phosphoinositide 3-kinase and beclin-1. We propose that an imbalance between induction and flux through the autophagic pathway contributes to cell stress and neuronal loss in NPC and related sphingolipid-storage disorders, and discuss potential therapeutic strategies for modulating activity of this pathway." @default.
- W2160081421 created "2016-06-24" @default.
- W2160081421 creator A5017653961 @default.
- W2160081421 creator A5064188953 @default.
- W2160081421 date "2008-09-01" @default.
- W2160081421 modified "2023-10-17" @default.
- W2160081421 title "The pathogenesis of Niemann–Pick type C disease: a role for autophagy?" @default.
- W2160081421 cites W1481650860 @default.
- W2160081421 cites W1485826436 @default.
- W2160081421 cites W1490798921 @default.
- W2160081421 cites W1578752381 @default.
- W2160081421 cites W1690219722 @default.
- W2160081421 cites W1966485745 @default.
- W2160081421 cites W1967111894 @default.
- W2160081421 cites W1973603326 @default.
- W2160081421 cites W1973920571 @default.
- W2160081421 cites W1975229711 @default.
- W2160081421 cites W1976252335 @default.
- W2160081421 cites W1977095036 @default.
- W2160081421 cites W1977451676 @default.
- W2160081421 cites W1977767269 @default.
- W2160081421 cites W1980020885 @default.
- W2160081421 cites W1987695408 @default.
- W2160081421 cites W1989968739 @default.
- W2160081421 cites W1990138203 @default.
- W2160081421 cites W1991105254 @default.
- W2160081421 cites W1992659717 @default.
- W2160081421 cites W1993629125 @default.
- W2160081421 cites W1994823455 @default.
- W2160081421 cites W1995292245 @default.
- W2160081421 cites W1996168740 @default.
- W2160081421 cites W1997002063 @default.
- W2160081421 cites W1997648004 @default.
- W2160081421 cites W2002363184 @default.
- W2160081421 cites W2002646402 @default.
- W2160081421 cites W2003742510 @default.
- W2160081421 cites W2003750313 @default.
- W2160081421 cites W2003908133 @default.
- W2160081421 cites W2005144914 @default.
- W2160081421 cites W2005256936 @default.
- W2160081421 cites W2014053081 @default.
- W2160081421 cites W2014205131 @default.
- W2160081421 cites W2016040396 @default.
- W2160081421 cites W2016152013 @default.
- W2160081421 cites W2017077683 @default.
- W2160081421 cites W2018827685 @default.
- W2160081421 cites W2022812113 @default.
- W2160081421 cites W2026714211 @default.
- W2160081421 cites W2027065209 @default.
- W2160081421 cites W2037373871 @default.
- W2160081421 cites W2037821728 @default.
- W2160081421 cites W2038231552 @default.
- W2160081421 cites W2039202215 @default.
- W2160081421 cites W2040444645 @default.
- W2160081421 cites W2040826935 @default.
- W2160081421 cites W2041618813 @default.
- W2160081421 cites W2042911755 @default.
- W2160081421 cites W2048340520 @default.
- W2160081421 cites W2053203314 @default.
- W2160081421 cites W2054595666 @default.
- W2160081421 cites W2056372083 @default.
- W2160081421 cites W2057764483 @default.
- W2160081421 cites W2059319138 @default.
- W2160081421 cites W2064978465 @default.
- W2160081421 cites W2086317930 @default.
- W2160081421 cites W2088184854 @default.
- W2160081421 cites W2089955565 @default.
- W2160081421 cites W2090127819 @default.
- W2160081421 cites W2093722439 @default.
- W2160081421 cites W2095285166 @default.
- W2160081421 cites W2096221379 @default.
- W2160081421 cites W2097631517 @default.
- W2160081421 cites W2100904923 @default.
- W2160081421 cites W2104758111 @default.
- W2160081421 cites W2107076295 @default.
- W2160081421 cites W2108086395 @default.
- W2160081421 cites W2108660588 @default.
- W2160081421 cites W2109034822 @default.
- W2160081421 cites W2111567059 @default.
- W2160081421 cites W2112818676 @default.
- W2160081421 cites W2129023888 @default.
- W2160081421 cites W2129712803 @default.
- W2160081421 cites W2134206147 @default.
- W2160081421 cites W2134893181 @default.
- W2160081421 cites W2135424735 @default.
- W2160081421 cites W2136977521 @default.
- W2160081421 cites W2138085505 @default.
- W2160081421 cites W2139285220 @default.
- W2160081421 cites W2144332892 @default.
- W2160081421 cites W2149816215 @default.
- W2160081421 cites W2150904359 @default.
- W2160081421 cites W2151302138 @default.
- W2160081421 cites W2152524859 @default.
- W2160081421 cites W2154404753 @default.
- W2160081421 cites W2155503300 @default.
- W2160081421 cites W2155835417 @default.
- W2160081421 cites W2162400220 @default.
- W2160081421 cites W2165509591 @default.
- W2160081421 cites W2168016965 @default.
- W2160081421 cites W2307447599 @default.