Literature DB >> 21040891

Getting to the core of repeat expansions by cell reprogramming.

Sergei M Mirkin1.   

Abstract

In this issue of Cell Stem Cell, Ku et al. (2010) demonstrate that iPSCS derived from Friedreich's ataxia patients exhibit expansion of the causative (GAA)(n) repeat, consistent with the repeat instability observed during intergenerational transmissions in humans. Furthermore, the epigenetic signature of the disease remains intact in Friedreich's ataxia iPSCs.
Copyright © 2010 Elsevier Inc. All rights reserved.

Entities:  

Year:  2010        PMID： 21040891      PMCID： PMC3008408          DOI： 10.1016/j.stem.2010.10.005

Source DB:  PubMed          Journal:  Cell Stem Cell        ISSN： 1875-9777            Impact factor:   24.633


  10 in total

1.  Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.

Authors:  Sherman Ku; Elisabetta Soragni; Erica Campau; Elizabeth A Thomas; Gulsah Altun; Louise C Laurent; Jeanne F Loring; Marek Napierala; Joel M Gottesfeld
Journal:  Cell Stem Cell       Date:  2010-11-05       Impact factor: 24.633

2.  Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.

Authors:  Anna Seriola; Claudia Spits; Jodie P Simard; Pierre Hilven; Patrick Haentjens; Christopher E Pearson; Karen Sermon
Journal:  Hum Mol Genet       Date:  2010-10-08       Impact factor: 6.150

Review 3.  Chromatin remodeling in the noncoding repeat expansion diseases.

Authors:  Daman Kumari; Karen Usdin
Journal:  J Biol Chem       Date:  2008-10-28       Impact factor: 5.157

4.  Progressive GAA.TTC repeat expansion in human cell lines.

Authors:  Scott Ditch; Mimi C Sammarco; Ayan Banerjee; Ed Grabczyk
Journal:  PLoS Genet       Date:  2009-10-30       Impact factor: 5.917

Review 5.  Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease.

Authors:  Cynthia T McMurray
Journal:  DNA Repair (Amst)       Date:  2008-05-09

Review 6.  Transcription-coupled DNA repair: two decades of progress and surprises.

Authors:  Philip C Hanawalt; Graciela Spivak
Journal:  Nat Rev Mol Cell Biol       Date:  2008-12       Impact factor: 94.444

7.  Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.

Authors:  Achia Urbach; Ori Bar-Nur; George Q Daley; Nissim Benvenisty
Journal:  Cell Stem Cell       Date:  2010-05-07       Impact factor: 24.633

8.  A distinct first replication cycle of DNA introduced in mammalian cells.

Authors:  Gurangad S Chandok; Kalvin K Kapoor; Rachel M Brick; Julia M Sidorova; Maria M Krasilnikova
Journal:  Nucleic Acids Res       Date:  2010-11-09       Impact factor: 16.971

9.  Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

Authors:  G De Michele; F Cavalcanti; C Criscuolo; L Pianese; A Monticelli; A Filla; S Cocozza
Journal:  Hum Mol Genet       Date:  1998-11       Impact factor: 6.150

10.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
  10 in total
  2 in total

1.  Coupling transcriptional state to large-scale repeat expansions in yeast.

Authors:  Kartik A Shah; Ryan J McGinty; Vera I Egorova; Sergei M Mirkin
Journal:  Cell Rep       Date:  2014-11-20       Impact factor: 9.423

2.  Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells.

Authors:  Gurangad S Chandok; Mayank P Patel; Sergei M Mirkin; Maria M Krasilnikova
Journal:  Nucleic Acids Res       Date:  2012-01-19       Impact factor: 16.971
  2 in total

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