dc.contributor.author
Ravindran, Ethiraj
dc.contributor.author
Arashiki, Nobuto
dc.contributor.author
Becker, Lena-Luise
dc.contributor.author
Takizawa, Kohtaro
dc.contributor.author
Lévy, Jonathan
dc.contributor.author
Rambaud, Thomas
dc.contributor.author
Makridis, Konstantin L
dc.contributor.author
Goshima, Yoshio
dc.contributor.author
Li, Na
dc.contributor.author
Vreeburg, Maaike
dc.contributor.author
Demeer, Bénédicte
dc.contributor.author
Dickmanns, Achim
dc.contributor.author
Stegmann, Alexander PA
dc.contributor.author
Hu, Hao
dc.contributor.author
Nakamura, Fumio
dc.contributor.author
Kaindl, Angela M
dc.date.accessioned
2023-04-13T12:42:01Z
dc.date.available
2023-04-13T12:42:01Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/38871
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-38587
dc.description.abstract
Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. Based on in silico analysis these variants are predicted to affect the CRMP1 structure. We further analyzed the effect of the variants on the protein structure/levels and cellular processes. We showed that the human CRMP1 variants impact the oligomerization of CRMP1 proteins. Moreover, overexpression of the CRMP1 variants affect neurite outgrowth of murine cortical neurons. While altered CRMP1 levels have been reported in psychiatric diseases, genetic variants in CRMP1 gene have never been linked to human disease. We report for the first-time variants in the CRMP1 gene and emphasize its key role in brain development and function by linking directly to a human neurodevelopmental disease.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
neurodevelopmental disorder
en
dc.subject
autism spectrum disorder
en
dc.subject
intellectual disability
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
e80793
dcterms.bibliographicCitation.doi
10.7554/elife.80793
dcterms.bibliographicCitation.journaltitle
eLife
dcterms.bibliographicCitation.originalpublishername
eLife Sciences Publications
dcterms.bibliographicCitation.volume
11
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
36511780
dcterms.isPartOf.eissn
2050-084X