Publication: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., … Bhat, M. A. (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Journal of Clinical Investigation, 133(10), e165019. https://doi.org/10.1172/jci165019
Abstract
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Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivat
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- Gehin, Charlotte
- Lone, Museer A
- Lee, Winston
- Capolupo, Laura
- Ho, Sylvia
- Adeyemi, Adekemi M
- Gerkes, Erica H
- Stegmann, Alexander P A
- López-Martín, Estrella
- Bermejo-Sánchez, Eva
- Martínez-Delgado, Beatriz
- Zweier, Christiane
- Kraus, Cornelia
- Popp, Bernt
- Strehlow, Vincent
- Gräfe, Daniel
- Knerr, Ina
- Jones, Eppie R
- Zamuner, Stefano
- Abriata, Luciano A
- Kunnathully, Vidya
- Moeller, Brandon E
- Vocat, Anthony
- Rommelaere, Samuel
- Bocquete, Jean-Philippe
- Ruchti, Evelyne
- Limoni, Greta
- Van Campenhoudt, Marine
- Bourgeat, Samuel
- Henklein, Petra
- Hornemann, Thorsten
- Bhat, Musadiq A
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Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., … Bhat, M. A. (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Journal of Clinical Investigation, 133(10), e165019. https://doi.org/10.1172/jci165019
