Ontology highlight
ABSTRACT:
SUBMITTER: Spinazzi M
PROVIDER: S-EPMC6320509 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Spinazzi Marco M Radaelli Enrico E Horré Katrien K Arranz Amaia M AM Gounko Natalia V NV Agostinis Patrizia P Maia Teresa Mendes TM Impens Francis F Morais Vanessa Alexandra VA Lopez-Lluch Guillermo G Serneels Lutgarde L Navas Placido P De Strooper Bart B
Proceedings of the National Academy of Sciences of the United States of America 20181221 1
The mitochondrial intramembrane rhomboid protease PARL has been implicated in diverse functions in vitro, but its physiological role in vivo remains unclear. Here we show that <i>Parl</i> ablation in mouse causes a necrotizing encephalomyelopathy similar to Leigh syndrome, a mitochondrial disease characterized by disrupted energy production. Mice with conditional PARL deficiency in the nervous system, but not in muscle, develop a similar phenotype as germline <i>Parl</i> KOs, demonstrating the v ...[more]