PRO-MINE: A bioinformatics repository and analytical tool for TARDBP mutations

Department of Molecular Biology, University of Zagreb, Croatia.
Human Mutation (Impact Factor: 5.14). 01/2011; 32(1):E1948-58. DOI: 10.1002/humu.21393
Source: PubMed


TDP-43 is a multifunctional RNA-binding protein found to be a major protein component of intracellular inclusions found in neurodegenerative disorders such as Fronto Temporal Lobar Degeneration, Amyotrophic Lateral Sclerosis, and Alzheimer Disease. PRO-MINE (PROtein Mutations In NEurodegeneration) is a database populated with manually curated data from the literature regarding all TDP-43/TDP43/TARDBP gene disease-associated mutations identified to date. A web server interface has been developed to query the database and to provide tools for the analysis of already reported or novel TDP-43 gene mutations. As is usually the case with genetic association studies, assessing the potential impact of identified mutations is of crucial importance, and in order to avoid prediction biases it is essential to compare the prediction results. However, in most cases mutations have to be submitted separately to various prediction tools and the individual results manually merged together afterwards. The implemented web server aims to overcome the problem by providing simultaneous access to several prediction tools and by displaying the results into a single output. Furthermore, the results are displayed together in a comprehensive output for a more convenient analysis and are enriched with additional information about mutations. In addition, our web server can also display the mutation(s) of interest within an alignment of annotated TDP-43 protein sequences from different vertebrate species. In this way, the degree of sequence conservation where the mutation(s) occur can be easily tracked and visualized. The web server is freely available to researchers and can be accessed at

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Available from: Emanuele Buratti
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    • "Multifunctional molecules. TDP-43, an important molecule with multifunctional RNA binding functions, apparently plays an important role in several neurodegenerative disorders, including AD, by generating intracellular inclusions [97], [98]. It is normally found in the nucleus, but under pathological conditions, moves to the cytoplasm where it is ubiquitinated, phosphorylated and cleaved to generate C-terminal fragments (reviewed in [99]). "
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