Huei-Ying Chen
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TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons
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Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome
Abstract Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. In this review, we provide an update on the progress regarding our understanding of TCF4 function at the molecular, cellular, physiological, and behavioral levels with a focus on phenotypes and therapeutic interventions.
Lost in Translation: Cul3-Dependent Pathological Mechanisms in Psychiatric Disorders
In this issue of Neuron, Dong et al. (2020) Dong Z. Chen W. Chen C. Wang H. Cui W. Tan Z. Robinson H. Gao N. Luo B. Zhang L. et al. CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation. Neuron. 2020; 105 ( ) : 475-490 finds that deficiency of the psychiatric risk gene Cul3, which encodes an E3 ubiquitin ligase, leads to an upregulation of Cap-dependent protein translation.
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