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Mastrototaro, G.* ; Zaghi, M.* ; Massimino, L.* ; Moneta, M.* ; Mohammadi, N.* ; Banfi, F.* ; Bellini, E.* ; Indrigo, M.* ; Fagnocchi, G.* ; Bagliani, A.* ; Taverna, S.* ; Rohm, M. ; Herzig, S. ; Sessa, A.*

TBL1XR1 ensures balanced neural development through NCOR complex-mediated regulation of the MAPK pathway.

Front. Cell Dev. Biol. 9:641410 (2021)
Verlagsversion DOI
Open Access Gold
Creative Commons Lizenzvertrag
TBL1XR1 gene is associated with multiple developmental disorders presenting several neurological aspects. The relative protein is involved in the modulation of important cellular pathways and master regulators of transcriptional output, including nuclear receptor repressors, Wnt signaling, and MECP2 protein. However, TBL1XR1 mutations (including complete loss of its functions) have not been experimentally studied in a neurological context, leaving a knowledge gap in the mechanisms at the basis of the diseases. Here, we show that Tbl1xr1 knock-out mice exhibit behavioral and neuronal abnormalities. Either the absence of TBL1XR1 or its point mutations interfering with stability/regulation of NCOR complex induced decreased proliferation and increased differentiation in neural progenitors. We suggest that this developmental unbalance is due to a failure in the regulation of the MAPK cascade. Taken together, our results broaden the molecular and functional aftermath of TBL1XR1 deficiency associated with human disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Mapk ; Ncor ; Tbl1xr1 ; Brain Development ; Neurodevelopmental Disorders
ISSN (print) / ISBN 2296-634X
e-ISSN 2296-634X
Quellenangaben Band: 9, Heft: , Seiten: , Artikelnummer: 641410 Supplement: ,
Verlag Frontiers
Verlagsort Lausanne
Begutachtungsstatus Peer reviewed
Förderungen Helmholtz Future Topic AMPro
Italian Ministry of University and Research (PRIN2017)
Italian Ministry of Health
Telethon