ATP13A2 deficiency disrupts lysosomal polyamine export.
Animals
Biocatalysis
Biological Transport
Caenorhabditis elegans
/ genetics
Cathepsin B
/ metabolism
Cytosol
/ metabolism
Disease Models, Animal
Endocytosis
Humans
Lysosomes
/ metabolism
Mice
Mutation
Neurons
/ metabolism
Phenotype
Polyamines
/ metabolism
Proton-Translocating ATPases
/ deficiency
Spermidine
/ metabolism
Spermine
/ metabolism
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
21
12
2018
accepted:
02
12
2019
pubmed:
31
1
2020
medline:
30
5
2020
entrez:
31
1
2020
Statut:
ppublish
Résumé
ATP13A2 (PARK9) is a late endolysosomal transporter that is genetically implicated in a spectrum of neurodegenerative disorders, including Kufor-Rakeb syndrome-a parkinsonism with dementia
Identifiants
pubmed: 31996848
doi: 10.1038/s41586-020-1968-7
pii: 10.1038/s41586-020-1968-7
doi:
Substances chimiques
ATP13A2 protein, human
0
Polyamines
0
Spermine
2FZ7Y3VOQX
Cathepsin B
EC 3.4.22.1
Proton-Translocating ATPases
EC 3.6.3.14
Spermidine
U87FK77H25
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
419-424Références
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