Article

Severe neurometabolic phenotype in <i>npc1</i> <sup>-/-</sup> zebrafish with a C-terminal mutation

2023-02-10

Abstract excerpt

<h4>ABSTRACT</h4> 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 cerebellar ataxia. NPC1 is the most common causal gene, with over 460 different mutations with heterogeneous pathological conseque...

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Literature Corpus work: 1d443013-985f-50e7-b653-482d486c3023
DOI: 10.1101/2023.02.09.527822

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