Despite rapid advances in the genetics of complex human diseases, understanding

Despite rapid advances in the genetics of complex human diseases, understanding the significance of human disease alleles remains a critical roadblock to clinical translation. was applied to patient-derived cells in a monogenic form of diabetes and identified several classes of compounds (including FDA-approved drugs) that show functional interactions with the causative disease gene, and also… Continue reading Despite rapid advances in the genetics of complex human diseases, understanding

Alternative premRNA splicing is a major mechanism to generate diversity of

Alternative premRNA splicing is a major mechanism to generate diversity of gene products. the relevant Numb splice isoform was sufficient to rescue, in an isoform-specific manner, postmitotic neurons from defects in differentiation caused by Rbfox3 depletion. Thus, Rbfox3-dependent alternative splicing plays an important role in the progression of neuronal differentiation during vertebrate development. Introduction Alternative… Continue reading Alternative premRNA splicing is a major mechanism to generate diversity of

Background The conversion of soluble peptides and proteins into polymeric amyloid

Background The conversion of soluble peptides and proteins into polymeric amyloid structures is really a hallmark of many age-related degenerative disorders, including Alzheimer’s disease, type II diabetes and a variety of systemic amyloidoses. suggesting that their formation is likely to be associated with bacterial infection. CA inclusions were also accompanied by the activation of macrophages… Continue reading Background The conversion of soluble peptides and proteins into polymeric amyloid