Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease.

ABSTRACT: Disruption of the primary cilium is associated with a growing number of human diseases collectively termed ciliopathies. Ciliopathies present with a broad range of clinical features consistent with the near ubiquitous nature of the organelle and its role in diverse signaling pathways throughout development and adult homeostasis. The clinical features associated with cilia dysfunction can include such phenotypes as polycystic kidneys, skeletal abnormalities, blindness, anosmia, and obesity. Although the clinical relevance of the primary cilium is evident, the effects that cilia dysfunction has on the cell and how this contributes to disease remains poorly understood. Here, we show that loss of ciliogenesis genes such as Ift88 and Kif3a lead to increases in post-translational modifications o

SUBMITTER: Berbari NF 

PROVIDER: S-EPMC3552319 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature