Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regulates key aspects of iron homeostasis, which prompte...

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Detalles Bibliográficos
Autores principales: Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090865/
https://www.ncbi.nlm.nih.gov/pubmed/37065726
http://dx.doi.org/10.12688/wellcomeopenres.17261.2

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