Mutant dynactin in motor neuron disease
- 10 March 2003
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 33 (4), 455-456
- https://doi.org/10.1038/ng1123
Abstract
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.This publication has 14 references indexed in Scilit:
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