A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by <i>BANF1</i>, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity. A rare recessive BAF variant, Ala12Thr, causes the premature agi...

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主要な著者:	Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore, Sophie Zinn-Justin, Pamela K. Geyer
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2023-03-01
シリーズ:	Cells
主題:	nuclear lamina Barrier-to-autointegration factor Néstor–Guillermo progeria syndrome motor neuropathy emerin DNA binding
オンライン･アクセス:	https://www.mdpi.com/2073-4409/12/6/847
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