Journal
NATURE GENETICS
Volume 33, Issue 4, Pages 455-456Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1123
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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 m neuron disease to a region of 4 Mb at chromosome 2p13. Mutation analysis of a gene 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 p dicted to distort the folding of dynactin's microtubule-binding domain. Binding assays show decreased binding of the mutant protein to microtubules. Our results show the dysfunction of dynactin-mediated transport can lead to human motor neuron disease.
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