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.
Copyright © 2013 Elsevier Inc. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Carrier Proteins / chemistry*
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Carrier Proteins / genetics
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Carrier Proteins / physiology*
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Cytoskeletal Proteins / chemistry*
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Cytoskeletal Proteins / deficiency
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Cytoskeletal Proteins / genetics
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Cytoskeletal Proteins / physiology*
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Dystonin
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Genetic Variation
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Humans
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Mice
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Models, Neurological
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Molecular Biology
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Mutation
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Nerve Degeneration / genetics
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Nerve Degeneration / pathology
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Nerve Degeneration / physiopathology
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Nerve Tissue Proteins / chemistry*
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Nerve Tissue Proteins / deficiency
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / physiology*
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Protein Isoforms / chemistry
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Protein Isoforms / genetics
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Protein Isoforms / physiology
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Protein Structure, Tertiary
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Sensory Receptor Cells / cytology
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Sensory Receptor Cells / physiology*
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Subcellular Fractions / metabolism
Substances
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Carrier Proteins
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Cytoskeletal Proteins
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DST protein, human
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Dst protein, mouse
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Dystonin
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Nerve Tissue Proteins
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Protein Isoforms