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 …

Glial cells: an important switch for the vascular function of the central nervous system

L Gao, X Pan, JH Zhang, Y Xia - Frontiers in Cellular Neuroscience, 2023 - frontiersin.org
In this review, we first describe the current understanding of glial-mediated vascular function
affecting the role of the blood-brain barrier (BBB) in central nervous system (CNS) disorders …

Multi-omic analysis of Huntington's disease reveals a compensatory astrocyte state

F Paryani, JS Kwon, CW Ng, K Jakubiak… - Nature …, 2024 - nature.com
The mechanisms underlying the selective regional vulnerability to neurodegeneration in
Huntington's disease (HD) have not been fully defined. To explore the role of astrocytes in …

Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification

TB Nguyen, R Miramontes, C Chillon-Marinas… - Nature …, 2025 - nature.com
Huntington's disease (HD) is caused by a CAG repeat expansion in the HTT gene, leading
to altered gene expression. However, the mechanisms leading to disrupted RNA processing …

ZEBRA: a hierarchically integrated gene expression atlas of the murine and human brain at single-cell resolution

M Flotho, J Amand, P Hirsch, F Grandke… - Nucleic Acids …, 2024 - academic.oup.com
The molecular causes and mechanisms of neurodegenerative diseases remain poorly
understood. A growing number of single-cell studies have implicated various neural, glial …

Dysregulation of protein SUMOylation networks in Huntington's disease R6/2 mouse striatum

M Kachemov, V Vaibhav, C Smith, N Sundararaman… - Brain, 2024 - academic.oup.com
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded CAG
repeat mutation in the Huntingtin (HTT) gene. The mutation impacts neuronal protein …

Transplanted human neural stem cells rescue phenotypes in zQ175 Huntington's disease mice and innervate the striatum

SM Holley, JC Reidling, C Cepeda, J Wu, RG Lim… - Molecular Therapy, 2023 - cell.com
Huntington's disease (HD), a genetic neurodegenerative disorder, primarily affects the
striatum and cortex with progressive loss of medium-sized spiny neurons (MSNs) and …

Montelukast improves disease outcome in SOD1G93A female mice by counteracting oligodendrocyte dysfunction and aberrant glial reactivity

S Raffaele, N Nguyen, M Milanese… - British Journal of …, 2024 - Wiley Online Library
Abstract Background and Purpose Amyotrophic lateral sclerosis (ALS) is a fatal
neurodegenerative disorder characterized by progressive motor neuron (MN) loss and …

Single-Cell Sequencing in Neurodegenerative Disorders

J Pozojevic, M Spielmann - Molecular Diagnosis & Therapy, 2023 - Springer
Neurodegenerative disorders are typically characterized by late onset progressive damage
to specific (sub) populations of cells of the nervous system that are essential for mobility …

[HTML][HTML] Metabolic dysregulation in Huntington's disease: Neuronal and glial perspectives

CP Chang, CW Wu, Y Chern - Neurobiology of Disease, 2024 - Elsevier
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by
a mutant huntingtin protein with an abnormal CAG/polyQ expansion in the N-terminus of …