The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia

N Calakos, ZF Caffall - The Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
The integrated stress response (ISR) is a highly conserved biochemical pathway involved in
maintaining proteostasis and cell health in the face of diverse stressors. In this Review, we …

Contemporary functional neuroanatomy and pathophysiology of dystonia

N Brüggemann - Journal of Neural Transmission, 2021 - Springer
Dystonia is a disabling movement disorder characterized by abnormal postures or patterned
and repetitive movements due to co-contraction of muscles in proximity to muscles desired …

Striatal synaptic dysfunction in dystonia and levodopa-induced dyskinesia

M Scarduzio, EJ Hess, DG Standaert… - Neurobiology of …, 2022 - Elsevier
This review provides an overview of the synaptic dysfunctions of neuronal circuits and
underlying neurochemical alterations observed in the hyperkinetic movement disorders …

Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia

B Ding, Y Tang, S Ma, M Akter, ML Liu… - Journal of …, 2021 - Soc Neuroscience
DYT1 dystonia is a hereditary neurologic movement disorder characterized by
uncontrollable muscle contractions. It is caused by a heterozygous mutation in Torsin A …

[HTML][HTML] Second hit hypothesis in dystonia: Dysfunctional cross talk between neuroplasticity and environment?

L Rauschenberger, S Knorr, A Pisani, M Hallett… - Neurobiology of …, 2021 - Elsevier
One of the great mysteries in dystonia pathophysiology is the role of environmental factors in
disease onset and development. Progress has been made in defining the genetic …

[HTML][HTML] A translational perspective on pathophysiological changes of oscillatory activity in dystonia and parkinsonism

L Rauschenberger, C Güttler, J Volkmann… - Experimental …, 2022 - Elsevier
Intracerebral recordings from movement disorders patients undergoing deep brain
stimulation have allowed the identification of pathophysiological patterns in oscillatory …

Diverse mechanisms lead to common dysfunction of striatal cholinergic interneurons in distinct genetic mouse models of dystonia

KLE Jaunarajs, M Scarduzio, ME Ehrlich… - Journal of …, 2019 - Soc Neuroscience
Clinical and experimental data indicate striatal cholinergic dysfunction in dystonia, a
movement disorder typically resulting in twisted postures via abnormal muscle contraction …

[HTML][HTML] The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory …

S Knorr, L Rauschenberger, UR Pasos… - Neurobiology of …, 2021 - Elsevier
TOR1A is the most common inherited form of dystonia with still unclear pathophysiology and
reduced penetrance of 30–40%.∆ ETorA rats mimic the TOR1A disease by expression of the …

[HTML][HTML] Genomic deletion of TLR2 induces aggravated white matter damage and deteriorated neurobehavioral functions in mouse models of Alzheimer's disease

C Zhou, X Sun, Y Hu, J Song, S Dong, D Kong… - Aging (Albany …, 2019 - ncbi.nlm.nih.gov
Abstract Toll-like receptor-2 (TLR2), a member of the TLR family, plays an important role in
the initiation and regulation of immune/inflammation response, which is a critical mechanism …

[HTML][HTML] Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia …

L Rauschenberger, EM Krenig, A Stengl, S Knorr… - Neurobiology of …, 2023 - Elsevier
The relationship between genotype and phenotype in DYT-TOR1A dystonia as well as the
associated motor circuit alterations are still insufficiently understood. DYT-TOR1A dystonia …