Ontology highlight
ABSTRACT:
SUBMITTER: Lucienne M
PROVIDER: S-EPMC10460489 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Lucienne Marie M Gerlini Raffaele R Rathkolb Birgit B Calzada-Wack Julia J Forny Patrick P Wueest Stephan S Kaech Andres A Traversi Florian F Forny Merima M Bürer Céline C Aguilar-Pimentel Antonio A Irmler Martin M Beckers Johannes J Sauer Sven S Kölker Stefan S Dewulf Joseph P JP Bommer Guido T GT Hoces Daniel D Gailus-Durner Valerie V Fuchs Helmut H Rozman Jan J Froese D Sean DS Baumgartner Matthias R MR de Angelis Martin Hrabě MH
Human molecular genetics 20230801 17
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses to energy shortage, we investigated a hemizygous mouse model of methylmalonyl-CoA mutase (Mmut)-type methylmalonic aciduria. We found Mmut mutant mice to have reduced appetite, energy expenditure and body mass compared with littermate controls, along with a relative reduction i ...[more]