Decreased Na


Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
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

8391

Références

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Auteurs

Zohreh Hosseinzadeh (Z)

Paul Flechsig Institute of Brain Research, University of Leipzig, Leipzig, Germany.
Department of Ophthalmology, University of Tübingen, Tübingen, Germany.

Stefan Hauser (S)

German Center for Neurodegenerative Diseases, Tübingen, Germany.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Yogesh Singh (Y)

Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Lisann Pelzl (L)

Transfusion Medicine, Medical Faculty, Eberhard Karl University, Tübingen, Germany.

Stefanie Schuster (S)

German Center for Neurodegenerative Diseases, Tübingen, Germany.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Yamini Sharma (Y)

Department of Internal Medicine III, University of Tübingen, Tübingen, Germany.

Philip Höflinger (P)

German Center for Neurodegenerative Diseases, Tübingen, Germany.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Nefeli Zacharopoulou (N)

Department of Biochemistry, University of Crete Medical School, Heraklion, Greece.
Department of Vegetative and Clinical Physiology, University of Tübingen, Tübingen, Germany.

Christos Stournaras (C)

Department of Biochemistry, University of Crete Medical School, Heraklion, Greece.

Daniel L Rathbun (DL)

Department of Ophthalmology, University of Tübingen, Tübingen, Germany.
Department Ophthalmology, Bionics and Vision, Henry Ford Hospital, Henry Ford, United States.

Eberhart Zrenner (E)

Department of Ophthalmology, University of Tübingen, Tübingen, Germany.

Ludger Schöls (L)

German Center for Neurodegenerative Diseases, Tübingen, Germany.
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Florian Lang (F)

Department of Vegetative and Clinical Physiology, University of Tübingen, Tübingen, Germany. florian.lang@uni-tuebingen.de.

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