HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts
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DOI: 10.1016/j.jlr.2021.100114
Abstract: Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder caused by mutations of the NPC1 gene. More than 300 disease-associated mutations are reported in patients, resulting in abnormal accumulation of unesterified cholesterol, glycosphingolipids,… read more here.
Keywords: storage; mutant fibroblasts; cholesterol; pick type ... See more keywords
Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms222111650
Abstract: Iron overload in the brain, defined as excess stores of iron, is known to be associated with neurological disorders. In neurodegeneration accompanied by brain iron accumulation, we reported a specific point mutation, c.974-1G>A in WD… read more here.
Keywords: accumulation; microscopy; mutant fibroblasts; cellular organelles ... See more keywords