Search results for "FUS P525L carriers"

ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation…

2017

Background: Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with SOD1, FUS, TARDBP, and C9ORF72 being the genes most frequently involved. This has allowed identification of asymptomatic mutation carriers, which may be of help in understanding the molecular changes preceding disease onset. Objectives: We studied the cellular expression of FUS protein and the effect of heat-shock-and dithiothreitol-induced stress in fibroblasts from FUS P525L mutation carriers, healthy controls, and patients with sporadic ALS. Methods: Western blots and immunocytochemistry were performed to study the subcellular localization of FUS protein. Control and stressed cells were double stained with…

ALS-RELATED FUS PROTEIN IS MISLOCALIZED TO CYTOPLASM AND RECRUITED INTO STRESS GRANULES IN FIBROBLASTS OF ASYMPTOMATIC FUS P525L MUTATION CARRIERS

Symptoms onset in Amyotrophic Lateral Sclerosis (ALS) occur when over 70% of motor neurons is already lost, suggesting a relatively long pre-symptomatic phase. The description of several genes linked to ALS (e.g., SOD1, FUS, TARDP, C9orf72) has now allowed identification of pre-symptomatic carriers. These pre-symptomatic (or even preclinical) carriers can be followed up with the aim to identify the very early clinical disease-related changes or a valuable biomarker. These efforts seem at present the best approach for the implementation of an early symptomatic therapy or for the disease prevention. In this work, we studied the expression of FUS protein in cultured skin fibroblasts from pre-s…