B Malla, X Guo, G Senger, Z Chasapopoulou… - Frontiers in …, 2021 - frontiersin.org
Huntington's disease (HD) is a chronic neurodegenerative disorder caused by an expansion of polyglutamine repeats in exon 1 of the Huntingtin gene. Transcriptional dysregulation …
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 …
The transcriptional regulation of genes determines the fate of animal cell differentiation and subsequent organ development. With the recent progress in genome-wide technologies, the …
S Chatterjee, R Cassel… - EMBO Molecular …, 2018 - embopress.org
Chromatin acetylation, a critical regulator of synaptic plasticity and memory processes, is thought to be altered in neurodegenerative diseases. Here, we demonstrate that spatial …
J Burtscher, G Pepe, N Maharjan, N Riguet… - Progress in lipid …, 2023 - Elsevier
Huntington disease (HD) is a debilitating, currently incurable disease. Protein aggregation and metabolic deficits are pathological hallmarks but their link to neurodegeneration and …
Z Hu, WW Tee - Bioscience reports, 2017 - portlandpress.com
Gene expression requires successful communication between enhancer and promoter regions, whose activities are regulated by a variety of factors and associated with distinct …
Recently, unique areas of transcriptional regulation termed super-enhancers have been identified and implicated in human disease. Defined by their magnitude of size, transcription …
A Elorza, Y Márquez, JR Cabrera… - Brain, 2021 - academic.oup.com
Correction of mis-splicing events is a growing therapeutic approach for neurological diseases such as spinal muscular atrophy or neuronal ceroid lipofuscinosis 7, which are …