[PDF][PDF] Cell-type-specific gene expression profiling in adult mouse brain reveals normal and disease-state signatures

N Merienne, C Meunier, A Schneider, J Seguin… - Cell reports, 2019 - cell.com
The role of brain cell-type-specific functions and profiles in pathological and non-
pathological contexts is still poorly defined. Such cell-type-specific gene expression profiles …

[HTML][HTML] Protein changes in synaptosomes of Huntington's disease knock-in mice are dependent on age and brain region

E Sapp, C Seeley, M Iuliano, E Weisman… - Neurobiology of …, 2020 - Elsevier
Molecular changes at synapses are thought to underly the deficits in motor and cognitive
dysfunction seen in Huntington's disease (HD). Previously we showed in synaptosome …

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 …

[HTML][HTML] Environmental stimulation in Huntington disease patients and animal models

A Novati, HP Nguyen, J Schulze-Hentrich - Neurobiology of Disease, 2022 - Elsevier
While Huntington disease (HD) is caused solely by a polyglutamine expansion in the
huntingtin gene, environmental factors can influence HD onset and progression. Here, we …

Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation

C Cariulo, L Azzollini, M Verani… - Proceedings of the …, 2017 - National Acad Sciences
Posttranslational modifications can have profound effects on the biological and biophysical
properties of proteins associated with misfolding and aggregation. However, their detection …

[PDF][PDF] Amyloid accumulation drives proteome-wide alterations in mouse models of Alzheimer's disease-like pathology

JN Savas, YZ Wang, LA DeNardo… - Cell reports, 2017 - cell.com
Amyloid beta (Aβ) peptides impair multiple cellular pathways and play a causative role in
Alzheimer's disease (AD) pathology, but how the brain proteome is remodeled by this …

[PDF][PDF] Genome-scale transcriptional regulatory network models of psychiatric and neurodegenerative disorders

JR Pearl, C Colantuoni, DE Bergey, CC Funk… - Cell systems, 2019 - cell.com
Transcriptional regulatory changes in the developing and adult brain are prominent features
of brain diseases, but the involvement of specific transcription factors (TFs) remains poorly …

Phenotype onset in Huntington's disease knock‐in mice is correlated with the incomplete splicing of the mutant huntingtin gene

NR Franich, MA Hickey, C Zhu… - Journal of …, 2019 - Wiley Online Library
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an
expanded CAG repeat within the huntingtin (HTT) gene. The Q140 and HdhQ150 knock‐in …

Systemic application of AAV vectors targeting GFAP-expressing astrocytes in Z-Q175-KI Huntington's disease mice

T Vagner, A Dvorzhak, AM Wójtowicz, C Harms… - Molecular and Cellular …, 2016 - Elsevier
Huntington's disease (HD) affects both neurons and astrocytes. To target the latter and to
ensure brain-wide transgene expression, adeno-associated viral (AAV) vectors can be …

Epigenetic regulation in Huntington's disease

JW Hyeon, AH Kim, H Yano - Neurochemistry international, 2021 - Elsevier
Huntington's disease (HD) is a devastating and fatal monogenic neurodegenerative disorder
characterized by progressive loss of selective neurons in the brain and is caused by an …