Functional and Genetic Analysis of Neuronal Isoforms of BPAG1

Methods in Enzymology
Anisha Lynch-Godrei, Rashmi Kothary

Abstract

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.

Citations

Jul 7, 2017·Journal of Cell Science·Jamie ZhangXiaoyang Wu
Dec 10, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Anisha Lynch-GodreiRashmi Kothary
Apr 10, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Jack ChengFuu-Jen Tsai
Dec 22, 2020·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Anisha Lynch-GodreiRashmi Kothary

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