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

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 p...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Cells
Subjects:
nuclear lamina
Barrier-to-autointegration factor
Néstor–Guillermo progeria syndrome
motor neuropathy
emerin
DNA binding
Online Access:https://www.mdpi.com/2073-4409/12/6/847

Internet

https://www.mdpi.com/2073-4409/12/6/847

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