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      Mouse polyQ database: a new online resource for research using mouse models of neurodegenerative diseases

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          Abstract

          Background

          The polyglutamine (polyQ) family of disorders comprises 9 genetic diseases, including several types of ataxia and Huntington disease. Approximately two decades of investigation and the creation of more than 130 mouse models of polyQ disorders have revealed many similarities between these diseases. The disorders share common mutation types, neurological characteristics and certain aspects of pathogenesis, including morphological and physiological neuronal alterations. All of the diseases still remain incurable.

          Description

          The large volume of information collected as a result of the investigation of polyQ models currently represents a great potential for searching, comparing and translating pathogenesis and therapeutic information between diseases. Therefore, we generated a public database comprising the polyQ mouse models, phenotypes and therapeutic interventions tested in vivo. The database is available at http://conyza.man.poznan.pl/.

          Conclusion

          The use of the database in the field of polyQ diseases may accelerate research on these and other neurodegenerative diseases and provide new perspectives for future investigation.

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          Most cited references15

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          Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

          H T Orr, M Y Chung, S. Banfi … (1993)
          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.
          Article 0 comments Cited 248 times – based on 0 reviews     Review now
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            The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping.

            Steve Brown, Mark Moore (2012)
            Determining the function of all mammalian genes remains a major challenge for the biomedical science community in the 21st century. The goal of the International Mouse Phenotyping Consortium (IMPC) over the next 10 years is to undertake broad-based phenotyping of 20,000 mouse genes, providing an unprecedented insight into mammalian gene function. This short article explores the drivers for large-scale mouse phenotyping and provides an overview of the aims and processes involved in IMPC mouse production and phenotyping.
            Article 0 comments Cited 148 times – based on 0 reviews     Review now
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              SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

              I. Kanazawa, Leonard James S. Tsuji, M Anno … (2001)
              Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47--55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).
              Article 0 comments Cited 101 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Wojciech J. Szlachcic: wjsz@ibch.poznan.pl
                Pawel M. Switonski: pswiton@ibch.poznan.pl
                Małgorzata Kurkowiak: kurkowiak@ibch.poznan.pl
                Kalina Wiatr: kwiatr@ibch.poznan.pl
                Maciej Figiel: +48618518518 ext 152 , mfigiel@ibch.poznan.pl
                Journal
                Journal ID (nlm-ta): Mol Brain
                Journal ID (iso-abbrev): Mol Brain
                Title: Molecular Brain
                Publisher: BioMed Central (London )
                ISSN (Electronic): 1756-6606
                Publication date (Electronic): 29 October 2015
                Publication date PMC-release: 29 October 2015
                Publication date Collection: 2015
                Volume: 8
                Electronic Location Identifier: 69
                Affiliations
                Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznań, Poland
                Article
                Publisher ID: 160
                DOI: 10.1186/s13041-015-0160-8
                PMC ID: 4625465
                PubMed ID: 26515641
                SO-VID: 94554370-c09d-4d16-86fb-d9cb6984491b
                Copyright © © Szlachcic et al. 2015
                License:

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                Date received : 26 August 2015
                Date accepted : 19 October 2015
                Categories
                Subject: Research
                Custom metadata
                issue-copyright-statement © The Author(s) 2015

                ScienceOpen disciplines: Neurosciences
                Keywords: polyglutamine diseases,mouse models,database,neurodegenerative disease,therapy,huntington disease,spinocerebellar ataxia,drpla,sbma
                Data availability:
                ScienceOpen disciplines: Neurosciences
                Keywords: polyglutamine diseases, mouse models, database, neurodegenerative disease, therapy, huntington disease, spinocerebellar ataxia, drpla, sbma

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