Title |
Mutant dynactin in motor neuron disease
|
---|---|
Published in |
Nature Genetics, March 2003
|
DOI | 10.1038/ng1123 |
Pubmed ID | |
Authors |
Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte, Erika L.F. Holzbaur, Mariko Tokito, Eric Mann, Mary Kay Floeter, Kimberly Bidus, Dennis Drayna, Shin J. Oh, Robert H. Brown, Christy L. Ludlow, Kenneth H. Fischbeck |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Saudi Arabia | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | <1% |
United Kingdom | 2 | <1% |
France | 2 | <1% |
Hungary | 2 | <1% |
Germany | 1 | <1% |
Egypt | 1 | <1% |
Canada | 1 | <1% |
Spain | 1 | <1% |
Guatemala | 1 | <1% |
Other | 0 | 0% |
Unknown | 447 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 108 | 23% |
Researcher | 62 | 13% |
Student > Master | 56 | 12% |
Student > Bachelor | 56 | 12% |
Student > Doctoral Student | 23 | 5% |
Other | 79 | 17% |
Unknown | 78 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 140 | 30% |
Neuroscience | 72 | 16% |
Biochemistry, Genetics and Molecular Biology | 63 | 14% |
Medicine and Dentistry | 59 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 7 | 2% |
Other | 21 | 5% |
Unknown | 100 | 22% |