Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
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DOI：
10.1083/jcb.200905158
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发表时间：
2010-04-05
期刊：
影响因子：
--
通讯作者：
Hays TS
中科院分区：
文献类型：
--
作者：
Lorenzo DN;Li MG;Mische SE;Armbrust KR;Ranum LP;Hays TS
How spectrin mutations caused Purkinje cell death becomes clearer following studies that examined the effect of expressing mutant SCA5 in the fly eye. Mutant spectrin causes deficits in synapse formation at the neuromuscular junction and disrupts vesicular trafficking. Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in the SPBTN2 gene encoding β-III–spectrin. To investigate the molecular basis of SCA5, we established a series of transgenic Drosophila models that express human β-III–spectrin or fly β-spectrin proteins containing SCA5 mutations. Expression of the SCA5 mutant spectrin in the eye causes a progressive neurodegenerative phenotype, and expression in larval neurons results in posterior paralysis, reduced synaptic terminal growth, and axonal transport deficits. These phenotypes are genetically enhanced by both dynein and dynactin loss-of-function mutations. In summary, we demonstrate that SCA5 mutant spectrin causes adult-onset neurodegeneration in the fly eye and disrupts fundamental intracellular transport processes that are likely to contribute to this progressive neurodegenerative disease.
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DOI：
10.1083/jcb.138.3.629
发表时间：
1997-08-11
期刊：
The Journal of cell biology
影响因子：
--
作者：
Carminati JL;Stearns T
通讯作者：
Stearns T
Dynein介导的体内货物运输。开关控制旅行距离。
影响因子：
7.8
作者：
Gross, S P;Welte, M A;Block, S M;Wieschaus, E F
通讯作者：
Wieschaus, E F
影响因子：
64.5
作者：
Bowman, AB;Kamal, A;Goldstein, LSB
通讯作者：
Goldstein, LSB
影响因子：
64.5
作者：
Freeman, M
通讯作者：
Freeman, M
影响因子：
3.3
作者：
Gough, LL;Fan, J;Beck, KA
通讯作者：
Beck, KA