Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons

Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons

Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the <i>SGCE</i> gene encoding ε-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the c...

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Bibliographic Details
Main Authors: Anna Kutschenko, Selma Staege, Karen Grütz, Hannes Glaß, Norman Kalmbach, Thomas Gschwendtberger, Lisa M. Henkel, Johanne Heine, Anne Grünewald, Andreas Hermann, Philip Seibler, Florian Wegner
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
DYT-SGCE
myoclonus-dystonia
induced pluripotent stem cells
striatal medium spiny neurons
calcium dynamics
patch-clamp electrophysiology
Online Access:https://www.mdpi.com/1422-0067/22/7/3565

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https://www.mdpi.com/1422-0067/22/7/3565

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