Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function
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- 作者：Arezu Jahani-Asla ; b ; c ; 1 ; Cheng Chenga ; 1 ; Chi Zhanga ; Azad Bonnia ; bonni@wustl.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：X-linked intellectual disability ; Bö ; rjeson-Forssman-Lehmann syndrome ; PHF6 ; PAF1 complex ; Neuronal positioning ; Transcription ; Heterotopia
- 刊名：Neurobiology of Disease
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：96
- 期：Complete
- 页码：227-235
- 全文大小：458 K
文摘
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Mutations of the PHF6 gene are linked with Börjeson-Forssman-Lehmann syndrome (BFLS).
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PHF6 regulates transcription via interactions with the PAF1 complex, NuRD complex, and UBF.
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miR-128 controls neuronal positioning by inhibiting PHF6 in the cerebral cortex.
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Deregulation of the PHF6/PAF1 complex triggers formation of white matter heterotopia.