Literature DB >> 10518991

Triplet repeat disorders: discussion of molecular mechanisms.

L T Timchenko1, C T Caskey.   

Abstract

Comparison of the growing number of disorders known to be associated with triplet repeat expansions reveals both common features and a diversity of molecular pathways. Despite significant progress towards the characterization of proteins coded by the mutant genes, the complex nature of these disorders requires identification of all molecular components of the triplet repeat pathways. In this brief review we will discuss recent progress in determining the molecular mechanisms of disorders with unstable trinucleotide mutations.

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Year:  1999        PMID: 10518991     DOI: 10.1007/s000180050383

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN: 1420-682X            Impact factor:   9.261


  6 in total

1.  FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Authors:  Deepti Sharma; Meena Gupta; B K Thelma
Journal:  Hum Genet       Date:  2002-12-14       Impact factor: 4.132

2.  Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation.

Authors:  G Raca; E Y Siyanova; C T McMurray; S M Mirkin
Journal:  Nucleic Acids Res       Date:  2000-10-15       Impact factor: 16.971

3.  Conformational energetics of stable and metastable states formed by DNA triplet repeat oligonucleotides: implications for triplet expansion diseases.

Authors:  J Völker; N Makube; G E Plum; H H Klump; K J Breslauer
Journal:  Proc Natl Acad Sci U S A       Date:  2002-11-04       Impact factor: 11.205

4.  Extrahelical cytosine bases in DNA duplexes containing d[GCC](n).d[GCC](n) repeats: detection by a mechlorethamine crosslinking reaction.

Authors:  P Rojsitthisak; R M Romero; I S Haworth
Journal:  Nucleic Acids Res       Date:  2001-11-15       Impact factor: 16.971

5.  Length-dependent energetics of (CTG)n and (CAG)n trinucleotide repeats.

Authors:  Samir Amrane; Barbara Saccà; Martin Mills; Madhu Chauhan; Horst H Klump; Jean-Louis Mergny
Journal:  Nucleic Acids Res       Date:  2005-07-21       Impact factor: 16.971

6.  RSMD-repeat searcher and motif detector.

Authors:  Udayakumar Mani; Vaidhyanathan Mahaganapathy; Sadhana Ravisankar; Sai Mukund Ramakrishnan
Journal:  J Biomed Res       Date:  2014-03-20
  6 in total

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