Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.

ABSTRACT: The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the 1970s, significant progress has been made in the understanding of the genetic alterations associated with the disease and their impact on molecular, cellular, and organismal functions. In this review, we provide a historic perspective on the research into CS by revisiting seminal papers in this field. We highlighted the great contributions of several researchers in the last decades, ranging from the cloning and characterization of CS genes to the molecular dissection of their roles in DNA repair, transcription, redox processes and metabolism control. We also

SUBMITTER: Vessoni AT 

PROVIDER: S-EPMC7250278 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature