Severe neurometabolic phenotype in npc1(−/−) zebrafish with a C-terminal mutation

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 mo...

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Detalles Bibliográficos
Autores principales: Quelle-Regaldie, Ana, Gandoy-Fieiras, Nerea, Rodríguez-Villamayor, Paula, Maceiras, Sandra, Losada, Ana Paula, Folgueira, Mónica, Cabezas-Sáinz, Pablo, Barreiro-Iglesias, Antón, Villar-López, María, Quiroga-Berdeal, María Isabel, Sánchez, Laura, Sobrido, María Jesús
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063808/
https://www.ncbi.nlm.nih.gov/pubmed/37008782
http://dx.doi.org/10.3389/fnmol.2023.1078634

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063808/
https://www.ncbi.nlm.nih.gov/pubmed/37008782
http://dx.doi.org/10.3389/fnmol.2023.1078634

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