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 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 …
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) …
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 …
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 …
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 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 …
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 …
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 …