Ontology highlight
ABSTRACT:
SUBMITTER: Xia H
PROVIDER: S-EPMC3474739 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Xia Haiyan H Cao Yun Y Dai Xiaoman X Marelja Zvonimir Z Zhou Di D Mo Ran R Al-Mahdawi Sahar S Pook Mark A MA Leimkühler Silke S Rouault Tracey A TA Li Kuanyu K
PloS one 20121017 10
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II and III), which are specifically expressed in affected cerebellum and heart tissues, respectively, and ...[more]