The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy
Open accessAbstract
Pathogenic mutations in the gene encoding TDP-43, TARDBP, have been reported in familial amyotrophic lateral sclerosis (FALS) and, more recently, in families with a heterogeneous clinical phenotype including both ALS and frontotemporal lobar degeneration (FTLD). In our previous study, sequencing analyses identified one variant in the 3′-untranslated region (3′-UTR) of the TARDBP gene in two affected members of one family with bvFTD and ALS and in one unrelated clinically assessed case of FALS. Since that study, brain tissue has become available and provides autopsy confirmation of FTLD-TDP in the proband and ALS in the brother of the bvFTD-ALS family and the neuropathology of those two cases is reported here. The 3′-UTR variant was not found in 982 control subjects (1,964 alleles). To determine the functional significance of this variant, we undertook quantitative gene expression analysis. Allele-specific amplification showed a significant increase of 22% (P < 0.05) in disease-specific allele expression with a twofold increase in total TARDBP mRNA. The segregation of this variant in a family with clinical bvFTD and ALS adds to the spectrum of clinical phenotypes previously associated with TARDBP variants. In summary, TARDBP variants may result in clinically and neuropathologically heterogeneous phenotypes linked by a common molecular pathology called TDP-43 proteinopathy.
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Cites
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Self-citationTARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
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Cited by
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
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TDP‐43 regulates its mRNA levels through a negative feedback loop
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There's Something Wrong with my MAM; the ER–Mitochondria Axis and Neurodegenerative Diseases
Paillusson, S., Stoica, R., Gomez-Suaga, P., Lau, D. H. W., Mueller, S., Miller, T., & Miller, C. C. J. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.01.008 · Cited by 439
Metadata
- Authors
- Gitcho, M. A., Bigio, E. H., Mishra, M., Johnson, N., Weintraub, S., Mesulam, M., Rademakers, R., Chakraverty, S., Cruchaga, C., Morris, J. C., Goate, A. M., & Cairns, N. J.
- Venue
- Acta Neuropathologica
- Published
- 2009-07-18
- Volume
- 118
- Issue
- 5
- Pages
- 633-645
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2084394003
- Cited by
- 161
- References
- 13
- FWCI
- 9.38
- Type
- journal article
- Language
- en
- Open access
- green
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- Gitcho, M. A., Bigio, E. H., Mishra, M., Johnson, N., Weintraub, S., Mesulam, M., Rademakers, R., Chakraverty, S., Cruchaga, C., Morris, J. C., Goate, A. M., & Cairns, N. J. (2009). TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathologica. https://doi.org/10.1007/s00401-009-0571-7
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