Ultrastructure of spinal anterior horn cells in human Niemann-Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes.
NPC1 gene
Niemann-Pick type C
anterior horn cell
electron microscope
endosome
lipid like-materials
mutant BALB/c NPC1−/− mice
spinal cord
ultrastructure
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
08
11
2019
revised:
13
03
2020
accepted:
26
03
2020
pubmed:
29
4
2020
medline:
1
5
2021
entrez:
29
4
2020
Statut:
ppublish
Résumé
Niemann-Pick disease type C (NPC) is a neurovisceral lipid-storage disease. Although NPC patients show lipid storage in anterior horn cells of the spinal cord, little information is available regarding the electron microscopic analyses of the morphologies of intra-endosomal lipid like-materials in the anterior horn cells of NPC patients. In this study, we elucidated the intra-endosomal ultrastructures in spinal anterior horn cells in an NPC patient, as well as in mutant BALB/c NPC1
Substances chimiques
Niemann-Pick C1 Protein
0
Retroelements
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
422-432Subventions
Organisme : Japan Society for the Promotion of Science
Organisme : AMED (Japan Agency for Medical Research and Development)
Informations de copyright
© 2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
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