title: Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.
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.
authors.affiliation: Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Anisha
authors.initials: A
authors.lastname: Lynch-Godrei
authors.affiliation: 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. Electronic address: rkothary@ohri.ca.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Kothary
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000502:physiology*; D002478:Cells, Cultured; D003598:Cytoskeletal Proteins / Q000502:physiology*; D004210:Dissection; D000071821:Dystonin; D005727:Ganglia, Spinal / Q000166:cytology; D015870:Gene Expression; D006801:Humans; D018345:Mice, Knockout; D009419:Nerve Tissue Proteins / Q000502:physiology*; D061251:Primary Cell Culture; D011984:Sensory Receptor Cells / Q000502:physiology
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C486268:DST protein, human; D000071821:Dystonin; D009419:Nerve Tissue Proteins
keywords: Dystonia musculorum; Dystonin; HSAN-VI; Hereditary sensory and autonomic neuropathy type VI; Neuronal BPAG1; dt