Title |
Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain
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Published in |
Journal of Neuroinflammation, December 2013
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DOI | 10.1186/1742-2094-10-146 |
Pubmed ID | |
Authors |
Adam D Bachstetter, Scott J Webster, Linda J Van Eldik, Franca Cambi |
Abstract |
Mutations in proteolipid protein (PLP), the most abundant myelin protein in the CNS, cause the X-linked dysmyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2). Point mutations, deletion, and duplication of the PLP1 gene cause PMD/SPG2 with varying clinical presentation. Deletion of an intronic splicing enhancer (ISEdel) within intron 3 of the PLP1 gene is associated with a mild form of PMD. Clinical and preclinical studies have indicated that mutations in myelin proteins, including PLP, can induce neuroinflammation, but the temporal and spatial onset of the reactive glia response in a clinically relevant mild form of PMD has not been defined. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 26 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 8 | 31% |
Student > Doctoral Student | 6 | 23% |
Student > Bachelor | 2 | 8% |
Student > Master | 2 | 8% |
Student > Postgraduate | 2 | 8% |
Other | 1 | 4% |
Unknown | 5 | 19% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 8 | 31% |
Neuroscience | 4 | 15% |
Medicine and Dentistry | 4 | 15% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Veterinary Science and Veterinary Medicine | 2 | 8% |
Other | 0 | 0% |
Unknown | 5 | 19% |