Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers

Abstract excerpt

<h4>Background</h4> DYT1 dystonia is a neurological movement disorder characterized by painful sustained muscle contractions resulting in abnormal twisting and postures. In a subset of patients, it is caused by a loss-of-function mutation (ΔE302/303; or ΔE) in the luminal ATPases associated with various cellular activities (AAA+) protein torsinA encoded by the TOR1A gene. The low penetrance of the ΔE mutation (∼...

Topics

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• Cellular transport and secretion
• Dystonia Musculorum Deformans
• Endoplasmic Reticulum
• Gene Knockdown Techniques
• Molecular Chaperones
• Molecular Dynamics Simulation
• Neurological disorders and treatments
• Protein Multimerization

Identifiers and source

Literature Corpus work

fa4937d5-f80a-5bb2-b60b-ec403d09af84

DOI

10.1101/2020.03.15.993113