Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]

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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Bibliographic Details
Main Authors: David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt
Format: Article
Language:English
Published: Wellcome 2023-04-01
Series:Wellcome Open Research
Subjects:
Niemann-Pick disease type C
iron
haematology
lysosome
lysosomal storage diseases
eng
Online Access:https://wellcomeopenresearch.org/articles/7-267/v2

Internet

https://wellcomeopenresearch.org/articles/7-267/v2

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