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 SGCE gene encoding ε-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic p...

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Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: Kutschenko, Anna, Staege, Selma, Grütz, Karen, Glaß, Hannes, Kalmbach, Norman, Gschwendtberger, Thomas, Henkel, Lisa M., Heine, Johanne, Grünewald, Anne, Hermann, Andreas, Seibler, Philip, Wegner, Florian
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8037318/
https://ncbi.nlm.nih.gov/pubmed/33808167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22073565
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