Title |
Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain
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Published in |
Acta Neuropathologica Communications, July 2013
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DOI | 10.1186/2051-5960-1-36 |
Pubmed ID | |
Authors |
Johanna I Busch, Maria Martinez-Lage, Emily Ashbridge, Murray Grossman, Vivianna M Van Deerlin, Fenghua Hu, Virginia MY Lee, John Q Trojanowski, Alice S Chen-Plotkin |
Abstract |
Frontotemporal lobar degeneration (FTLD) is the second most common cause of dementia in individuals under 65 years old and manifests as alterations in behavior, personality, or language secondary to degeneration of the frontal and/or temporal lobes. FTLD-TDP, the largest neuropathological subset of FTLD, is characterized by hyperphosphorylated, ubiquitinated TAR DNA-binding protein 43 (TDP-43) inclusions. Mutations in progranulin (GRN), a neuroprotective growth factor, are one of the most common Mendelian genetic causes of FTLD-TDP. Moreover, a recent genome-wide association study (GWAS) identified multiple SNPs within the uncharacterized gene TMEM106B that significantly associated with FTLD-TDP, suggesting that TMEM106B genotype confers risk for FTLD-TDP. Indeed, TMEM106B expression levels, which correlate with TMEM106B genotype, may play a role in the pathogenesis of disease. |
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Members of the public | 1 | 100% |
Mendeley readers
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Brazil | 1 | 2% |
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Researcher | 16 | 25% |
Student > Ph. D. Student | 13 | 20% |
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Student > Master | 5 | 8% |
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