Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases

ZI László, Z Lele - Frontiers in Neuroscience, 2022 - frontiersin.org
CDH2 belongs to the classic cadherin family of Ca2+-dependent cell adhesion molecules
with a meticulously described dual role in cell adhesion and β-catenin signaling. During …

The role (s) of NF-Y in development and differentiation

D Dolfini, C Imbriano, R Mantovani - Cell Death & Differentiation, 2024 - nature.com
NF-Y is a conserved sequence-specific trimeric Transcription Factor-TF-binding to the
CCAAT element. We review here the role (s) in development, from pre-implantation embryo …

The neurodevelopmental hypothesis of Huntington's disease

E van der Plas, JL Schultz… - Journal of Huntington's …, 2020 - content.iospress.com
The current dogma of HD pathoetiology posits it is a degenerative disease affecting primarily
the striatum, caused by a gain of function (toxicity) of the mutant mHTT that kills neurons …

Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier

C Yang, G Liu, X Chen, W Le - MedComm, 2024 - Wiley Online Library
The cerebellum is crucial for both motor and nonmotor functions. Alzheimer's disease (AD),
alongside other dementias such as vascular dementia (VaD), Lewy body dementia (DLB) …

Quantitative phosphoproteomics reveals extensive protein phosphorylation dysregulation in the cerebral cortex of Huntington's disease mice prior to onset of …

I Mees, H Tran, A Roberts, L Lago, S Li… - Molecular …, 2022 - Springer
Protein phosphorylation plays a role in many important cellular functions such as cellular
plasticity, gene expression, and intracellular trafficking. All of these are dysregulated in …

Retinal dysfunction in Huntington's disease mouse models concurs with local gliosis and microglia activation

F Cano-Cano, F Martín-Loro, A Gallardo-Orihuela… - Scientific Reports, 2024 - nature.com
Huntington's disease (HD) is caused by an aberrant expansion of CAG repeats in the HTT
gene that mainly affects basal ganglia. Although striatal dysfunction has been widely studied …

[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 …

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

A Khan, A Molitor, S Mayeur, G Zhang… - Movement …, 2022 - Wiley Online Library
Background The dystonias are a heterogeneous group of hyperkinetic disorders
characterized by sustained or intermittent muscle contractions that cause abnormal …

The effects of selective inhibition of histone deacetylase 1 and 3 in Huntington's disease mice

K Hecklau, S Mueller, SP Koch, MH Mehkary… - Frontiers in molecular …, 2021 - frontiersin.org
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease
characterized by a late clinical onset of psychiatric, cognitive, and motor symptoms …

Oxidative stress in DNA repeat expansion disorders: a focus on NRF2 signaling involvement

P La Rosa, S Petrillo, ES Bertini, F Piemonte - Biomolecules, 2020 - mdpi.com
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative
diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the …