title: Cellular and molecular biology of neuronal dystonin.
abstract: Neuronal dystonin isoforms are giant cytoskeletal cross-linking proteins capable of interacting with actin and microtubule networks, protein complexes, membrane-bound organelles and cellular membranes. In the neuromuscular system, dystonin proteins are involved in maintaining cytoarchitecture integrity and have more recently been ascribed roles in other cellular processes such as organelle structure and intracellular transport. Loss of dystonin expression in mice results in a profound sensory ataxia termed dystonia musculorum (dt), which is attributed to the degeneration of sensory nerves. This chapter provides a comprehensive overview of the dystonin gene, the structure of encoded proteins, biological functions of neuronal dystonin isoforms, and known roles of dystonin in dt pathogenesis and human disease.
authors.affiliation: Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
authors.forename: Andrew
authors.initials: A
authors.lastname: Ferrier
authors.forename: Justin G
authors.initials: JG
authors.lastname: Boyer
authors.forename: Rashmi
authors.initials: R
authors.lastname: Kothary
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*; D003598:Cytoskeletal Proteins / Q000737:chemistry* / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D000071821:Dystonin; D014644:Genetic Variation; D006801:Humans; D051379:Mice; D008959:Models, Neurological; D008967:Molecular Biology; D009154:Mutation; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000737:chemistry* / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D017434:Protein Structure, Tertiary; D011984:Sensory Receptor Cells / Q000166:cytology / Q000502:physiology*; D013347:Subcellular Fractions / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C486268:DST protein, human; C095667:Dst protein, mouse; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms