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Borrie SC, Horner AE, Yoshimura A, et al. Impaired instrumental learning in Spred1. Genes Brain Behav. 2021;20(5):e12727doi: 10.1111/gbb.12727.
Borrie, S. C., Horner, A. E., Yoshimura, A., Legius, E., Kopanitsa, M. V., & Brems, H. (2021). Impaired instrumental learning in Spred1. Genes, brain, and behavior, 20(5), e12727. https://doi.org/10.1111/gbb.12727
Borrie, Sarah C, et al. "Impaired instrumental learning in Spred1." Genes, brain, and behavior vol. 20,5 (2021): e12727. doi: https://doi.org/10.1111/gbb.12727
Borrie SC, Horner AE, Yoshimura A, Legius E, Kopanitsa MV, Brems H. Impaired instrumental learning in Spred1. Genes Brain Behav. 2021 Jun;20(5):e12727. doi: 10.1111/gbb.12727. Epub 2021 Mar 04. PMID: 33624414.
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Genes Brain Behav. 2021 Jun;20(5):e12727. doi: 10.1111/gbb.12727. Epub 2021 Mar 04.

Impaired instrumental learning in Spred1.

Genes, brain, and behavior

Sarah C Borrie, Alexa E Horner, Akihiko Yoshimura, Eric Legius, Maksym V Kopanitsa, Hilde Brems

Affiliations

  1. Department of Human Genetics, KU Leuven, Leuven, Belgium.
  2. Synome Ltd, Cambridge, UK.
  3. Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan.
  4. The Francis Crick Institute, London, UK.

PMID: 33624414 DOI: 10.1111/gbb.12727

Abstract

RASopathies are neuro-cardio-facio-cutaneous disorders stemming from mutations in genes regulating the RAS-MAPK pathway. Legius syndrome is a rare RASopathy disorder caused by mutations in the SPRED1 gene. SPRED1 protein negatively regulates activation of Ras by inhibiting RAS/RAF and by its interaction with neurofibromin, a Ras GTPase-activating protein (RAS-GAP). Cognitive impairments have been reported in Legius syndrome as well as in other RASopathy disorders. Modelling these cognitive deficits in a Spred1 mouse model for Legius syndrome has demonstrated spatial learning and memory deficits, but other cognitive domains remained unexplored. Here, we attempted to utilize a cognitive touchscreen battery to investigate if Spred1

© 2021 International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.

Keywords: MEK inhibition; RAS-MAPK; RASopathy; autism spectrum disorder; cognitive impairment; instrumental learning; mouse; neurodevelopmental disorder; spred1; touchscreen test

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