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Cellular pathology of Niemann–Pick type C disease
Seminars in Cell & Developmental Biology, 2004Niemann-Pick type C (NPC) is a lysosomal storage disorder that results in the accumulation of cholesterol and sphingolipids. Mutations in the NPC1 or NPC2 gene are responsible for the disease but the precise functions of the encoded proteins remain unresolved.
Elina, Ikonen, Maarit, Hölttä-Vuori
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Neurodegeneration in Niemann-Pick type C disease mice
Experimental Brain Research, 2001Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disorder associated with intracellular cholesterol and glycolipid trafficking defects. Two separate genes, NPC1 and NPC2, have been linked to NP-C. NPC1 encodes a polytopic membrane-bound protein with a putative sterol-sensing domain.
Ong, W.-Y. +6 more
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Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C
Nature, 2021Xintao Tu, Kun Yang, Jianjun Wu
exaly
Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins
Cell, 2019Mikael Becher Lykkegaard Winkler +2 more
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