Genetics and pathogenesis of dystonia

M Thomsen, LM Lange, M Zech… - Annual Review of …, 2024 - annualreviews.org
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Dystonia

B Balint, NE Mencacci, EM Valente, A Pisani… - Nature reviews Disease …, 2018 - nature.com
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

[HTML][HTML] Sleep loss can cause death through accumulation of reactive oxygen species in the gut

A Vaccaro, YK Dor, K Nambara, EA Pollina, C Lin… - Cell, 2020 - cell.com
The view that sleep is essential for survival is supported by the ubiquity of this behavior, the
apparent existence of sleep-like states in the earliest animals, and the fact that severe sleep …

Structural basis for the ubiquitination of G protein βγ subunits by KCTD5/Cullin3 E3 ligase

W Jiang, W Wang, Y Kong, S Zheng - Science Advances, 2023 - science.org
G protein–coupled receptor (GPCR) signaling is precisely controlled to avoid
overstimulation that results in detrimental consequences. Gβγ signaling is negatively …

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders

X Teng, A Aouacheria, L Lionnard… - CNS neuroscience & …, 2019 - Wiley Online Library
The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not
known. In contrast, mechanistic understanding of other brain disorders including …

Structure and dynamics of a pentameric KCTD5/CUL3/Gβγ E3 ubiquitin ligase complex

DM Nguyen, DH Rath, D Devost… - Proceedings of the …, 2024 - National Acad Sciences
Heterotrimeric G proteins can be regulated by posttranslational modifications, including
ubiquitylation. KCTD5, a pentameric substrate receptor protein consisting of an N-terminal …

[HTML][HTML] BDNF-TrkB signaling orchestrates the buildup process of local sleep

W ElGrawani, G Sun, FP Kliem, S Sennhauser… - Cell reports, 2024 - cell.com
Sleep debt accumulates during wakefulness, leading to increased slow wave activity (SWA)
during sleep, an encephalographic marker for sleep need. The use-dependent demands of …

Excessive daytime sleepiness: an emerging marker of cardiovascular risk

J Bock, N Covassin, V Somers - Heart, 2022 - heart.bmj.com
Excessive daytime sleepiness (EDS) is classically viewed as a consequence of insufficient
sleep or a symptom of sleep disorders. Epidemiological and clinical evidence have shown …

Genetic dystonias: update on classification and new genetic discoveries

IJ Keller Sarmiento, NE Mencacci - Current neurology and neuroscience …, 2021 - Springer
Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Neurogenetic basis for circadian regulation of metabolism by the hypothalamus

J Cedernaes, N Waldeck, J Bass - Genes & Development, 2019 - genesdev.cshlp.org
Circadian rhythms are driven by a transcription–translation feedback loop that separates
anabolic and catabolic processes across the Earth's 24-h light–dark cycle. Central …