Publication: Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
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Lucienne, M., Gerlini, R., Rathkolb, B., Calzada-Wack, J., Forny, P., Wueest, S., Kaech, A., Traversi, F., Forny, M., Bürer, C., Aguilar-Pimentel, A., Irmler, M., Beckers, J., Sauer, S., Kölker, S., Dewulf, J. P., Bommer, G. T., Hoces, D., Gailus-Durner, V., … de Angelis, M. H. (2023). Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. Human Molecular Genetics, 32, 2717–2734. https://doi.org/10.1093/hmg/ddad100
Abstract
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Abstract
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 in lean mass but increase in fat mass. Br
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Creators (Authors)
- Lucienne, Marie
- Gerlini, Raffaele
- Rathkolb, Birgit
- Calzada-Wack, Julia
- Forny, Patrick
- Wueest, Stephan
- Kaech, Andres
- Traversi, Florian
- Forny, Merima
- Bürer, Céline
- Aguilar-Pimentel, Antonio
- Irmler, Martin
- Beckers, Johannes
- Sauer, Sven
- Kölker, Stefan
- Dewulf, Joseph P
- Bommer, Guido T
- Hoces, Daniel
- Gailus-Durner, Valerie
- Fuchs, Helmut
- Rozman, Jan
- de Angelis, Martin Hrabě
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Citations
Lucienne, M., Gerlini, R., Rathkolb, B., Calzada-Wack, J., Forny, P., Wueest, S., Kaech, A., Traversi, F., Forny, M., Bürer, C., Aguilar-Pimentel, A., Irmler, M., Beckers, J., Sauer, S., Kölker, S., Dewulf, J. P., Bommer, G. T., Hoces, D., Gailus-Durner, V., … de Angelis, M. H. (2023). Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. Human Molecular Genetics, 32, 2717–2734. https://doi.org/10.1093/hmg/ddad100
