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KMID : 0578320090270010089
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Molecules and Cells
2009 Volume.27 No. 1 p.89 ~ p.97
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Delta FY Mutation in Human Torsina Induces Locomotor Disability and Abberant Synaptic Structures in Drosophila
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Lee Dae-Weon
Seo Jong-Bok
Ganetzky Barry
Koh Young-Ho
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Abstract
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We investigate the molecular and cellular etiologies that underlie the deletion of the six amino acid residues (323-Y328; Y) in human torsin A (HtorA). The most common and severe mutation involved with early-onset torsion dystonia is a glutamic acid deletion ( 302/303; ) in HtorA which induces protein aggregates in neurons and cells. Even though Y HtorA forms no protein clusters, flies expressing Y HtorA in neurons or muscles manifested a similar but delayed onset of adult locomotor disability compared with flies expressing in HtorA. In addition, flies expressing Y HtorA had fewer aberrant ultrastructures at synapses compared with flies expressing HtorA. Taken together, the Y mutation in HtorA may be responsible for behavioral and anatomical aberrations in Drosophila.
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KEYWORD
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disorders, dystonia, DYT1, movement, synapse
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