Ontology highlight
ABSTRACT:
SUBMITTER: Podrini C
PROVIDER: S-EPMC6240072 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Podrini Christine C Rowe Isaline I Pagliarini Roberto R Costa Ana S H ASH Chiaravalli Marco M Di Meo Ivano I Kim Hyunho H Distefano Gianfranco G Tiranti Valeria V Qian Feng F di Bernardo Diego D Frezza Christian C Boletta Alessandra A
Communications biology 20181116
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by loss-of-function mutations in <i>PKD1</i> or <i>PKD2</i>. Increased glycolysis is a prominent feature of the disease, but how it impacts on other metabolic pathways is unknown. Here, we present an analysis of mouse <i>Pkd1</i> mutant cells and kidneys to investigate the metabolic reprogramming of this pathology. We show that loss of <i>Pkd1</i> leads to profound metabolic changes that affect glycolysis, mitochon ...[more]