Literature DB >> 15895554

Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective.

Gracjan Michlewski1, Wlodzimierz J Krzyzosiak.   

Abstract

The underlying cause of a number of autosomal dominant spinocerebellar ataxias is the expansion of various types of simple sequence repeats located in diverse functional regions of different single genes. The genetic heterogeneity of these diseases which contrasts with the similarity of their pathology sites and clinical symptoms justifies the search for the shared mechanism of pathogenesis. In this article we discuss the arguments which are in favor of the RNA-mediated pathomechanism.

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Year:  2005        PMID: 15895554     DOI: 10.1080/14734220510007905

Source DB:  PubMed          Journal:  Cerebellum        ISSN: 1473-4222            Impact factor:   3.847


  31 in total

Review 1.  SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia.

Authors:  S E Holmes; E O Hearn; C A Ross; R L Margolis
Journal:  Brain Res Bull       Date:  2001 Oct-Nov 1       Impact factor: 4.077

Review 2.  Structures of trinucleotide repeats in human transcripts and their functional implications.

Authors:  Anna Jasinska; Gracjan Michlewski; Mateusz de Mezer; Krzysztof Sobczak; Piotr Kozlowski; Marek Napierala; Wlodzimierz J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2003-10-01       Impact factor: 16.971

3.  Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

Authors:  S E Holmes; E E O'Hearn; M G McInnis; D A Gorelick-Feldman; J J Kleiderlein; C Callahan; N G Kwak; R G Ingersoll-Ashworth; M Sherr; A J Sumner; A H Sharp; U Ananth; W K Seltzer; M A Boss; A M Vieria-Saecker; J T Epplen; O Riess; C A Ross; R L Margolis
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

4.  Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

Authors:  A Mankodi; C R Urbinati; Q P Yuan; R T Moxley; V Sansone; M Krym; D Henderson; M Schalling; M S Swanson; C A Thornton
Journal:  Hum Mol Genet       Date:  2001-09-15       Impact factor: 6.150

5.  The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Authors:  Rob Willemsen; Marianne Hoogeveen-Westerveld; Surya Reis; Joan Holstege; Lies-Anne W F M Severijnen; Ingeborg M Nieuwenhuizen; Mariette Schrier; Leontine van Unen; Flora Tassone; Andre T Hoogeveen; Paul J Hagerman; Edwin J Mientjes; Ben A Oostra
Journal:  Hum Mol Genet       Date:  2003-05-01       Impact factor: 6.150

6.  Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

Authors:  Majid Fardaei; Mark T Rogers; Helena M Thorpe; Kenneth Larkin; Marion G Hamshere; Peter S Harper; J David Brook
Journal:  Hum Mol Genet       Date:  2002-04-01       Impact factor: 6.150

Review 7.  RNA gains a new function: a mediator of neurodegeneration.

Authors:  Harry T Orr
Journal:  Trends Neurosci       Date:  2004-05       Impact factor: 13.837

Review 8.  The fragile-X premutation: a maturing perspective.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Am J Hum Genet       Date:  2004-03-29       Impact factor: 11.025

Review 9.  Myotonic dystrophy: RNA pathogenesis comes into focus.

Authors:  Laura P W Ranum; John W Day
Journal:  Am J Hum Genet       Date:  2004-04-02       Impact factor: 11.025

10.  Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.

Authors:  Marek Napierala; Daniel Michalowski; Mateusz de Mezer; Wlodzimierz J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2005-01-19       Impact factor: 16.971

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  2 in total

1.  Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans.

Authors:  Li-Chun Wang; Kuan-Yu Chen; Huichin Pan; Chia-Chieh Wu; Po-Hsuan Chen; Yuan-Ting Liao; Chin Li; Min-Lang Huang; Kuang-Ming Hsiao
Journal:  Cell Mol Life Sci       Date:  2010-09-17       Impact factor: 9.261

Review 2.  Thyrotropin-releasing hormone (TRH) in the cerebellum.

Authors:  Nobuyuki Shibusawa; Koshi Hashimoto; Masanobu Yamada
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

  2 in total

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