Literature DB >> 18665420

Functional genomics approaches to neurodegenerative diseases.

David C Rubinsztein1.   

Abstract

Many of the neurodegenerative diseases that afflict humans are characterised by the protein aggregation in neurons. These include complex diseases like Alzheimer's disease and Parkinson's disease, and Mendelian diseases caused by polyglutamine expansion mutations [like Huntington's disease (HD) and various spinocerebellar ataxias (SCAs), like SCA3]. A range of functional genomic strategies have been used to try to elucidate pathways involved in these diseases. In this minireview, I focus on how modifier screens in organisms from yeast to mice may be of value in helping to elucidate pathogenic pathways.

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Year:  2008        PMID: 18665420     DOI: 10.1007/s00335-008-9130-0

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  19 in total

1.  Familial influence on age of onset among siblings with Huntington disease.

Authors:  A Rosenblatt; R R Brinkman; K Y Liang; E W Almqvist; R L Margolis; C Y Huang; M Sherr; M L Franz; M H Abbott; M R Hayden; C A Ross
Journal:  Am J Med Genet       Date:  2001-07-08

Review 2.  Drosophila as a model for human neurodegenerative disease.

Authors:  Julide Bilen; Nancy M Bonini
Journal:  Annu Rev Genet       Date:  2005       Impact factor: 16.830

Review 3.  Mouse mutagenesis-systematic studies of mammalian gene function.

Authors:  S D Brown; P M Nolan
Journal:  Hum Mol Genet       Date:  1998       Impact factor: 6.150

4.  Family and molecular data for a fine analysis of age at onset in Huntington disease.

Authors:  F Squitieri; G Sabbadini; P Mandich; C Gellera; E Di Maria; E Bellone; B Castellotti; E Nargi; U de Grazia; M Frontali; A Novelletto
Journal:  Am J Med Genet       Date:  2000-12-11

Review 5.  Mouse ENU mutagenesis.

Authors:  M J Justice; J K Noveroske; J S Weber; B Zheng; A Bradley
Journal:  Hum Mol Genet       Date:  1999       Impact factor: 6.150

6.  Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation.

Authors:  Ellen A A Nollen; Susana M Garcia; Gijs van Haaften; Soojin Kim; Alejandro Chavez; Richard I Morimoto; Ronald H A Plasterk
Journal:  Proc Natl Acad Sci U S A       Date:  2004-04-14       Impact factor: 11.205

7.  Mouse models of human phenylketonuria.

Authors:  A Shedlovsky; J D McDonald; D Symula; W F Dove
Journal:  Genetics       Date:  1993-08       Impact factor: 4.562

Review 8.  The roles of intracellular protein-degradation pathways in neurodegeneration.

Authors:  David C Rubinsztein
Journal:  Nature       Date:  2006-10-19       Impact factor: 49.962

9.  A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse.

Authors:  Alexander F Jeans; Peter L Oliver; Reuben Johnson; Marco Capogna; Jenny Vikman; Zoltán Molnár; Arran Babbs; Christopher J Partridge; Albert Salehi; Martin Bengtsson; Lena Eliasson; Patrik Rorsman; Kay E Davies
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-05       Impact factor: 11.205

Review 10.  Huntington's disease: from pathology and genetics to potential therapies.

Authors:  Sara Imarisio; Jenny Carmichael; Viktor Korolchuk; Chien-Wen Chen; Shinji Saiki; Claudia Rose; Gauri Krishna; Janet E Davies; Evangelia Ttofi; Benjamin R Underwood; David C Rubinsztein
Journal:  Biochem J       Date:  2008-06-01       Impact factor: 3.857

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  5 in total

Review 1.  The cerebellum, cerebellar disorders, and cerebellar research--two centuries of discoveries.

Authors:  Mario Manto
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

Review 2.  Genetic modifiers of neurological disease.

Authors:  Jennifer A Kearney
Journal:  Curr Opin Genet Dev       Date:  2011-01-19       Impact factor: 5.578

Review 3.  Short non-coding RNA biology and neurodegenerative disorders: novel disease targets and therapeutics.

Authors:  Marc S Weinberg; Matthew J A Wood
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

4.  Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms.

Authors:  Xi Chen; Robert D Burgoyne
Journal:  BMC Genomics       Date:  2012-02-14       Impact factor: 3.969

5.  Laboratory Medicine in the Scope of Proteomics and Genomics.

Authors:  Urszula Demkow
Journal:  EJIFCC       Date:  2010-10-29
  5 in total

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