Ontology highlight
ABSTRACT:
SUBMITTER: Mastrototaro G
PROVIDER: S-EPMC7940385 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Mastrototaro Giuseppina G Zaghi Mattia M Massimino Luca L Moneta Matteo M Mohammadi Neda N Banfi Federica F Bellini Edoardo E Indrigo Marzia M Fagnocchi Giulia G Bagliani Anna A Taverna Stefano S Rohm Maria M Herzig Stephan S Sessa Alessandro A
Frontiers in cell and developmental biology 20210223
<i>TBL1XR1</i> 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 ...[more]