Lynch-Godrei Anisha, Kothary Rashmi
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada; University of Ottawa Center for Neuromuscular Disease, Ottawa, Ontario, Canada.
Methods Enzymol. 2016;569:355-72. doi: 10.1016/bs.mie.2015.05.004. Epub 2015 Jun 1.
The neuronal isoforms of bullous pemphigoid antigen 1 (BPAG1, and also known as dystonin) are a group of large cytoskeletal linker proteins predominantly expressed in sensory neurons. The major neuronal isoforms consist of the spectraplakins (BPAG1/dystonin-a1, -a2, -a3), which have an N-terminus actin-binding domain and a C-terminus microtubule-binding domain. These proteins have crucial roles in cytoskeletal organization and stability, organelle integrity, and intracellular transport. BPAG1 loss-of-function in mice results in a lethal movement disorder known as dystonia musculorum (dt), which is likely caused by rapid sensory neuron degeneration. A human disease termed hereditary and sensory autonomic neuropathy type VI was also identified to be associated with mutations in the BPAG1 gene (DST). This chapter provides an overview of the type of experiments used for analysis of the different isoforms of BPAG1.
大疱性类天疱疮抗原1（BPAG1，也称为网蛋白）的神经元异构体是一组主要在感觉神经元中表达的大型细胞骨架连接蛋白。主要的神经元异构体由光谱斑蛋白（BPAG1/网蛋白-a1、-a2、-a3）组成，它们具有一个N端肌动蛋白结合结构域和一个C端微管结合结构域。这些蛋白质在细胞骨架组织和稳定性、细胞器完整性以及细胞内运输中起关键作用。小鼠中BPAG1功能丧失会导致一种致命的运动障碍，称为肌张力障碍性肌病（dt），这可能是由感觉神经元的快速退化引起的。一种名为遗传性感觉自主神经病VI型的人类疾病也被确定与BPAG1基因（DST）的突变有关。本章概述了用于分析BPAG1不同异构体的实验类型。
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