Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons

Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons

DYT-THAP1 dystonia (formerly DYT6) is an adolescent-onset dystonia characterized by involuntary muscle contractions usually involving the upper body. It is caused by mutations in the gene THAP1 encoding for the transcription factor Thanatos-associated protein (THAP) domain containing apoptosis-assoc...

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Bibliographic Details
Main Authors: Selma Staege, Anna Kutschenko, Hauke Baumann, Hannes Glaß, Lisa Henkel, Thomas Gschwendtberger, Norman Kalmbach, Martin Klietz, Andreas Hermann, Katja Lohmann, Philip Seibler, Florian Wegner
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
DYT-THAP1
genetic dystonia
induced pluripotent stem cells
striatal medium spiny neurons
GABAA receptor
calcium dynamics
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.650586/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.650586/full

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