Topic: stress granules

Fragile X Syndrome (FXS), a frequent form of inherited intellectual disability and a leading monogenic cause of autism, is caused by lack/reduction of fragile X mental retardation protein (FMRP), an RNA-binding protein involved in several aspects of RNA metabolism. Abnormal expression of proteins at synapses underlies brain dysfunction in FXS. FMRP is also implicated in DNA damage response and is a component of stress granules (SGs), cytoplasmatic aggregates that form in response to stress and are protective against apoptosis. Evidence in the mouse model of FXS suggests an excess of oxidizing

TDP-43 is an important DNA/RNA-binding protein that is mainly localized in the cell nucleus. In neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), it is mislocalized and becomes a central component of cytoplasmic protein aggregates. Our aim was to investigate the interactome of wild-type TDP-43 and TDP-43 without nuclear localization signal (dNLS), which mimics a pathological condition in ALS. We generated inducible mammalian cell lines expressing TDP-43wt and TDP-TDP-43dNLS. Using the BioID method, we investigated the interactome of these

Spinocerebellar ataxia type 2 (SCA2) is a rare neurodegenerative disease that arises from a mutation within the ATXN2 gene characterised by abnormally long CAG trinucleotide repeats. The mutant gene product is the ataxin-2 protein, which bears an expanded glutamine tract. The mutant protein is known to disrupt molecular pathways within cells, leading to cellular death and neurodegeneration within specific brain regions.To cope with disrupted pathways, cells have mechanisms such as the Integrated Stress Response (IRS), which help cells resolve stress situations by reorganising translation to pr