Model construction of Niemann-Pick type C disease in zebrafish
Sign Up to like & getrecommendations! Published in 2018 at "Biological Chemistry"
DOI: 10.1515/hsz-2018-0118
Abstract: Abstract Niemann-Pick type C disease (NPC) is a rare human disease, with limited effective treatment options. Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene. However, cellular and molecular mechanisms… read more here.
Keywords: disease; model; npc1 zebrafish; pick type ... See more keywords
Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2023.1078634
Abstract: Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and… read more here.
Keywords: npc1 zebrafish; phenotype npc1; model; mutation ... See more keywords