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Severe Neurometabolic Phenotype in NPC1−/− Zebrafish With a C-Terminal Mutation
(Frontiers, 2023-03-17)
[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 ...
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
(MDPI, 2022)
[Abstract] NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion ...