Dystonias comprise a group of movement disorders that are characterized by involuntary movements and postures. Insight into the nature of neuronal dysfunction has been provided …
An enigmatic feature of many genetic diseases is that mutations in widely expressed genes cause tissue-specific illness. One example is DYT1 dystonia, a neurodevelopmental disease …
Much research has implicated the striatum in motor learning, but the underlying mechanisms have not been identified. Although NMDA receptor (NMDAR)-dependent long-term …
Dystonia is a movement disorder of both genetic and non-genetic causes, which typically results in twisted posturing due to abnormal muscle contraction. Evidence from dystonia …
LB Tucker, AH Fu, JT McCabe - Journal of neurotrauma, 2016 - liebertpub.com
To date, clinical trials have failed to find an effective therapy for victims of traumatic brain injury (TBI) who live with motor, cognitive, and psychiatric complaints. Pre-clinical …
CC Liang, LM Tanabe, S Jou, F Chi… - The Journal of clinical …, 2014 - Am Soc Clin Investig
Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements has stymied identification of the cellular and molecular underpinnings of the disease. The …
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1–4, 5a, b, 6–8, 10–13 and 15–18 (loci DYT 1–4, 5a, b, 6–8, 10–13, 15–18) have been recognized. Twelve …
B Burke, CL Stewart - Current topics in developmental biology, 2014 - Elsevier
In eukaryotes, the function of the cell's nucleus has primarily been considered to be the repository for the organism's genome. However, this rather simplistic view is undergoing a …
R Fremont, A Tewari, C Angueyra, K Khodakhah - elife, 2017 - elifesciences.org
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have …