Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex
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- 作者：Nanako Hamada ; Hidenori Ito ; Ikuko Iwamoto ; Rika Morishita…
- 关键词：Rbfox1 ; Neuronal migration ; Axon growth ; Synapse formation ; Corticogenesis
- 刊名：Molecular Autism
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：6
- 期：1
- 全文大小：2,282 KB
- 刊物主题：Neurology; Neurosciences; Neuropsychology; Molecular Medicine; Psychiatry; Pediatrics;
- 出版者：BioMed Central
- ISSN：2040-2392
文摘
Background RBFOX1 (also known as FOX1 or A2BP1) regulates alternative splicing of a variety of transcripts crucial for neuronal functions. Physiological significance of RBFOX1 during brain development is seemingly essential since abnormalities in the gene cause autism spectrum disorder (ASD) and other neurodevelopmental and neuropsychiatric disorders such as intellectual disability, epilepsy, attention deficit hyperactivity disorder, and schizophrenia. RBFOX1 was also shown to serve as a “hub” in ASD gene transcriptome network. However, the pathophysiological significance of RBFOX1 gene abnormalities remains to be clarified.