Literature DB >> 12671660

Modelling brain diseases in mice: the challenges of design and analysis.

Kei Watase1, Huda Y Zoghbi.   

Abstract

Genetically engineered mice have been generated to model a variety of neurological disorders. Several of these models have provided valuable insights into the pathogenesis of the relevant diseases; however, they have rarely reproduced all, or even most, of the features observed in the corresponding human conditions. Here, we review the challenges that must be faced when attempting to accurately reproduce human brain disorders in mice, and discuss some of the ways to overcome them. Building on the knowledge gathered from the study of existing mutants, and on recent progress in phenotyping mutant mice, we anticipate better methods for preclinical interventional trials and significant advances in the understanding and treatment of neurological diseases.

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Year:  2003        PMID: 12671660     DOI: 10.1038/nrg1045

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  21 in total

1.  Progress in human genetics.

Authors:  Sara M Mariani
Journal:  MedGenMed       Date:  2004-12-07

Review 2.  Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.

Authors:  James A Briggs; Elizabeth A Mason; Dmitry A Ovchinnikov; Christine A Wells; Ernst J Wolvetang
Journal:  Stem Cells Transl Med       Date:  2013-02-14       Impact factor: 6.940

3.  Embryonic stem cell models of CAG repeat disease.

Authors:  Matthew T Lorincz
Journal:  Cerebellum       Date:  2005       Impact factor: 3.847

4.  Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.

Authors:  Marija Trajkovic; Theo J Visser; Jens Mittag; Sigrun Horn; Jan Lukas; Veerle M Darras; Genadij Raivich; Karl Bauer; Heike Heuer
Journal:  J Clin Invest       Date:  2007-02-22       Impact factor: 14.808

5.  Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats.

Authors:  Liliana H Mochmann; Robert D Wells
Journal:  Nucleic Acids Res       Date:  2004-08-18       Impact factor: 16.971

6.  Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.

Authors:  James P Orengo; Pierre Chambon; Daniel Metzger; Dennis R Mosier; G Jackson Snipes; Thomas A Cooper
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-13       Impact factor: 11.205

7.  Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice.

Authors:  Michelle Gray; Dyna I Shirasaki; Carlos Cepeda; Véronique M André; Brian Wilburn; Xiao-Hong Lu; Jifang Tao; Irene Yamazaki; Shi-Hua Li; Yi E Sun; Xiao-Jiang Li; Michael S Levine; X William Yang
Journal:  J Neurosci       Date:  2008-06-11       Impact factor: 6.167

8.  Aneuploidy and confined chromosomal mosaicism in the developing human brain.

Authors:  Yuri B Yurov; Ivan Y Iourov; Svetlana G Vorsanova; Thomas Liehr; Alexei D Kolotii; Sergei I Kutsev; Franck Pellestor; Alfia K Beresheva; Irina A Demidova; Viktor S Kravets; Viktor V Monakhov; Ilia V Soloviev
Journal:  PLoS One       Date:  2007-06-27       Impact factor: 3.240

9.  Human iPSC-derived blood-brain barrier microvessels: validation of barrier function and endothelial cell behavior.

Authors:  Raleigh M Linville; Jackson G DeStefano; Matt B Sklar; Zinnia Xu; Alanna M Farrell; Max I Bogorad; Chengyan Chu; Piotr Walczak; Linzhao Cheng; Vasiliki Mahairaki; Katharine A Whartenby; Peter A Calabresi; Peter C Searson
Journal:  Biomaterials       Date:  2018-10-25       Impact factor: 12.479

10.  ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.

Authors:  Ewa Damrath; Melanie V Heck; Suzana Gispert; Mekhman Azizov; Joachim Nowock; Carola Seifried; Udo Rüb; Michael Walter; Georg Auburger
Journal:  PLoS Genet       Date:  2012-08-30       Impact factor: 5.917

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