Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE

• Glavni autori: Lucía F. Zacchi (Autor), John C. Dittmar (Autor), Michael J. Mihalevic (Autor), Annette M. Shewan (Autor), Benjamin L. Schulz (Autor), Jeffrey L. Brodsky (Autor), Kara A. Bernstein (Autor)
• Format: Knjiga
• Izdano: The Company of Biologists, 2017-09-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Dystonia is the third most common movement disorder, but its diagnosis and treatment remain challenging. One of the most severe types of dystonia is early-onset torsion dystonia (EOTD). The best studied and validated EOTD-associated mutation, torsinAΔE, is a deletion of a C-terminal glutamate residu...