The study “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” will be published in the Federation of American Societies for Experimental Biology Journal (FASEBJ). “For the time being, this is a very interesting study that needs to be recognized by broad audience in life sciences and medicine” according to Dr. Robert Goldman an expert in the field of intermediate filaments and to the reviewers who have recognized the importance of publishing the data. This journal has a good reputation and a wide range of readership which should increase the awareness of ARSACS research.
In summary, the loss of Sacsin in the ataxia ARSACS leads to disorganization of the neurofilament network. This study identified direct roles of Sacsin domains in regulating intermediate filament assembly and dynamics, implicating Sacsin as an essential factor in maintaining cytoarchitecture.