Decreased Na
Benzoates
/ pharmacology
Bridged Bicyclo Compounds, Heterocyclic
/ pharmacology
Case-Control Studies
Cell Differentiation
Cell Membrane
/ drug effects
Cells, Cultured
Humans
Immediate-Early Proteins
/ antagonists & inhibitors
Induced Pluripotent Stem Cells
/ cytology
Lithium
/ pharmacology
Membrane Potentials
/ drug effects
Neuroacanthocytosis
/ metabolism
Neurons
/ cytology
Patch-Clamp Techniques
Protein Serine-Threonine Kinases
/ antagonists & inhibitors
Sodium-Potassium-Exchanging ATPase
/ genetics
Vesicular Transport Proteins
/ genetics
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
21 05 2020
21 05 2020
Historique:
received:
04
07
2019
accepted:
17
04
2020
entrez:
23
5
2020
pubmed:
23
5
2020
medline:
15
1
2021
Statut:
epublish
Résumé
Loss of function mutations of the chorein-encoding gene VPS13A lead to chorea-acanthocytosis (ChAc), a neurodegenerative disorder with accelerated suicidal neuronal cell death, which could be reversed by lithium. Chorein upregulates the serum and glucocorticoid inducible kinase SGK1. Targets of SGK1 include the Na
Identifiants
pubmed: 32439941
doi: 10.1038/s41598-020-64845-0
pii: 10.1038/s41598-020-64845-0
pmc: PMC7242441
doi:
Substances chimiques
Benzoates
0
Bridged Bicyclo Compounds, Heterocyclic
0
Immediate-Early Proteins
0
VPS13A protein, human
0
Vesicular Transport Proteins
0
2-cyclopentyl-4-(5-phenyl-1H-pyrrolo(2,3-b)pyridin-3-yl)-benzoic acid
56887611DJ
Lithium
9FN79X2M3F
Protein Serine-Threonine Kinases
EC 2.7.11.1
serum-glucocorticoid regulated kinase
EC 2.7.11.1
ATP1A1 protein, human
EC 3.6.1.-
Sodium-Potassium-Exchanging ATPase
EC 7.2.2.13
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
8391Références
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