Literature DB >> 18957428

Unstable nucleotide repeat minireview series: a molecular biography of unstable repeat disorders.

Harry T Orr1.   

Abstract

Expansion of an unstable nucleotide repeat is a mutational mechanism that is apparently unique to humans and is known to cause a variety of neurological disorders. This collection of minireviews examines several of these unstable repeats, focusing on those where there is considerable molecular information on how the mutation alters function.

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Year:  2008        PMID： 18957428      PMCID： PMC2658033          DOI： 10.1074/jbc.R800067200

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  1 in total

Review 1.  Trinucleotide repeat disorders.

Authors:  Harry T Orr; Huda Y Zoghbi
Journal:  Annu Rev Neurosci       Date:  2007       Impact factor: 12.449
  1 in total
  5 in total

Review 1.  Stress-induced modulators of repeat instability and genome evolution.

Authors:  Natalie C Fonville; R Matthew Ward; David Mittelman
Journal:  J Mol Microbiol Biotechnol       Date:  2012-01-13

2.  Repeat-associated non-ATG (RAN) translation.

Authors:  John Douglas Cleary; Amrutha Pattamatta; Laura P W Ranum
Journal:  J Biol Chem       Date:  2018-09-13       Impact factor: 5.157

3.  A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Authors:  Janel O Johnson; Giovanni Stevanin; Joyce van de Leemput; Dena G Hernandez; Sampath Arepalli; Sylvie Forlani; Reza Zonozi; J Raphael Gibbs; Alexis Brice; Alexandra Durr; Andrew B Singleton
Journal:  Mov Disord       Date:  2014-12-27       Impact factor: 10.338

4.  Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing.

Authors:  John W Fondon; Andy Martin; Stephen Richards; Richard A Gibbs; David Mittelman
Journal:  PLoS One       Date:  2012-03-12       Impact factor: 3.240

5.  Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.

Authors:  Gareth Highnam; Christopher Franck; Andy Martin; Calvin Stephens; Ashwin Puthige; David Mittelman
Journal:  Nucleic Acids Res       Date:  2012-10-22       Impact factor: 16.971
  5 in total

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