HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

Sleep Disorder Kleine–Levin Syndrome (KLS) Joins the List of Polygenic Brain Disorders Associated with Obstetric Complications

M Hamper, R Schmidt-Kastner - Cellular and Molecular Neurobiology, 2023 - Springer
Abstract Kleine–Levin Syndrome is a rare neurological disorder with onset typically during
adolescence that is characterized by recurrent episodes of hypersomnia, behavioral …

Meta-analysis of diurnal transcriptomics in mouse liver reveals low repeatability of rhythm analyses

TG Brooks, A Manjrekar, A Mrcˇela… - Journal of biological …, 2023 - journals.sagepub.com
To assess the consistency of biological rhythms across studies, 57 public mouse liver tissue
timeseries totaling 1096 RNA-seq samples were obtained and analyzed. Only the control …

Metabolomic analysis of plasma in Huntington's disease transgenic sheep (Ovis aries) reveals progressive circadian rhythm dysregulation

M Spick, TPM Hancox, NR Chowdhury… - Journal of …, 2023 - content.iospress.com
Background: Metabolic abnormalities have long been predicted in Huntington's disease
(HD) but remain poorly characterized. Chronobiological dysregulation has been described …

Systems genetics analyses reveals key genes related to behavioral traits in the striatum of CFW mice

Z Han, C Yang, H He, T Huang, Q Yin… - Journal of …, 2024 - Soc Neuroscience
The striatum plays a central role in directing many complex behaviors ranging from motor
control to action choice and reward learning. In our study, we used 55 male CFW mice with …

Comparative rhythmic transcriptome profiling of human and mouse striatal subregions

KA Petersen, W Zong, LM Depoy, MR Scott… - …, 2024 - nature.com
The human striatum can be subdivided into the caudate, putamen, and nucleus accumbens
(NAc). In mice, this roughly corresponds to the dorsal medial striatum (DMS), dorsal lateral …

[HTML][HTML] Sleep and circadian rhythm dysfunction in animal models of Huntington's disease

AJ Morton - Journal of Huntington's Disease, 2023 - content.iospress.com
Sleep and circadian disruption affects most individuals with Huntington's disease (HD) at
some stage in their lives. Sleep and circadian dysregulation are also present in many mouse …

[PDF][PDF] HDinHD: An Online Data Portal for Huntington's Disease Research https://www. hdinhd. org

V Andreeva, RA Blevins, I Murasheva, K Armah… - ranchobiosciences.com
To provide rich functional context for HD gene set enrichment analysis, we developed an HD-
relevant gene set library called HDSigDB. The core of HDSigDB is derived from curation and …