排序方式: 共有1条查询结果,搜索用时 0 毫秒
1
1.
Mutant dynactin in motor neuron disease 总被引:24,自引:0,他引:24
Puls I Jonnakuty C LaMonte BH Holzbaur EL Tokito M Mann E Floeter MK Bidus K Drayna D Oh SJ Brown RH Ludlow CL Fischbeck KH 《Nature genetics》2003,33(4):455-456
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 Mb at chromosome 2p13. Mutation analysis of a gene in this interval that encodes the largest subunit of the axonal transport protein dynactin showed a single base-pair change resulting in an amino-acid substitution that is predicted to distort the folding of dynactin's microtubule-binding domain. Binding assays show decreased binding of the mutant protein to microtubules. Our results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease. 相似文献
1