Article
Modelling a pathological GSX2 variant that selectively alters DNA binding reveals hypomorphic mouse brain defects.
Disease models & mechanisms - 1 Feb 2025
Tweedie Laura, Riccetti Matthew R, Cain Brittany, Qin Shenyue, Salomone Joseph, Webb Jordan A, Riesenberg Amy, Ehrman Lisa A, Waclaw Ronald R, Kovall Rhett A, Gebelein Brian, Campbell Kenneth
Abstract excerpt
Gsx2 is a homeodomain transcription factor critical for development of the ventral telencephalon and hindbrain in mouse. Loss of Gsx2 function results in severe basal ganglia dysgenesis and defects in the nucleus tractus solitarius (nTS) of the hindbrain, together with respiratory failure at birth. De Mori et al. (2019) reported two patients with severe dystonia and basal ganglia dysgenesis that encode distinct...
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