Title |
Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice
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Published in |
Acta Neuropathologica Communications, February 2014
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DOI | 10.1186/2051-5960-2-20 |
Pubmed ID | |
Authors |
Michael P Nelson, Tonia E Tse, Darrel B O’Quinn, Stefanie M Percival, Edgar A Jaimes, David G Warnock, John J Shacka |
Abstract |
Mutations in the gene for alpha-galactosidase A result in Fabry disease, a rare, X-linked lysosomal storage disorder characterized by a loss of alpha-galactosidase A enzymatic activity. The resultant accumulation of glycosphingolipids throughout the body leads to widespread vasculopathy with particular detriment to the kidneys, heart and nervous system. Disruption in the autophagy-lysosome pathway has been documented previously in Fabry disease but its relative contribution to nervous system pathology in Fabry disease is unknown. Using an experimental mouse model of Fabry disease, alpha-galactosidase A deficiency, we examined brain pathology in 20-24 month old mice with particular emphasis on the autophagy-lysosome pathway. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
United Kingdom | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | <1% |
Unknown | 101 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 17 | 17% |
Student > Bachelor | 11 | 11% |
Student > Master | 9 | 9% |
Professor > Associate Professor | 7 | 7% |
Professor | 6 | 6% |
Other | 22 | 22% |
Unknown | 30 | 29% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 19 | 19% |
Biochemistry, Genetics and Molecular Biology | 14 | 14% |
Medicine and Dentistry | 10 | 10% |
Neuroscience | 10 | 10% |
Chemistry | 3 | 3% |
Other | 14 | 14% |
Unknown | 32 | 31% |