Literature DB >> 15862312

Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles.

Vaishali Handa1, Deena Goldwater, David Stiles, Margaret Cam, George Poy, Daman Kumari, Karen Usdin.   

Abstract

People with 59-200 CGG.CCG-repeats in the 5' UTR of one of their FMR1 genes are at risk for Fragile X tremor and ataxia syndrome. Females are also at risk for premature ovarian failure. These symptoms are thought to be due to the presence of the repeats at the DNA and/or RNA level. We show here that long transcribed but untranslated CGG-repeat tracts are toxic to human cells and alter the expression of a wide variety of different genes including caspase-8, CYFIP, Neurotensin and UBE3A.

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Year:  2005        PMID: 15862312     DOI: 10.1016/j.febslet.2005.04.004

Source DB:  PubMed          Journal:  FEBS Lett        ISSN: 0014-5793            Impact factor:   4.124


  29 in total

Review 1.  Neurodegeneration the RNA way.

Authors:  Abigail J Renoux; Peter K Todd
Journal:  Prog Neurobiol       Date:  2011-11-03       Impact factor: 11.685

Review 2.  Epigenetics in nucleotide repeat expansion disorders.

Authors:  Fang He; Peter K Todd
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

Review 3.  RNA-mediated neurodegeneration in repeat expansion disorders.

Authors:  Peter K Todd; Henry L Paulson
Journal:  Ann Neurol       Date:  2010-03       Impact factor: 10.422

4.  Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Authors:  Weerasak Chonchaiya; Jacky Au; Andrea Schneider; David Hessl; Susan W Harris; Meredith Laird; Yi Mu; Flora Tassone; Danh V Nguyen; Randi J Hagerman
Journal:  Hum Genet       Date:  2011-10-15       Impact factor: 4.132

5.  Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation.

Authors:  Robert F Berman; Karl D Murray; Gloria Arque; Michael R Hunsaker; H Jürgen Wenzel
Journal:  Epilepsia       Date:  2012-06       Impact factor: 5.864

Review 6.  The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.

Authors:  Karen Usdin
Journal:  Genome Res       Date:  2008-07       Impact factor: 9.043

7.  Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

Authors:  Lillian M Zwemer; Sarah L Nolin; Patricia M Okamoto; Marcia Eisenberg; Heather C Wick; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2016-10-25       Impact factor: 3.050

Review 8.  Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.

Authors:  Daman Kumari; Rachel Lokanga; Dmitry Yudkin; Xiao-Nan Zhao; Karen Usdin
Journal:  Biochim Biophys Acta       Date:  2012-01-05

9.  Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Authors:  Danuta Z Loesch; David E Godler; Mahmoud Khaniani; Emma Gould; Freya Gehling; Cheryl Dissanayake; Trent Burgess; Flora Tassone; Richard Huggins; Howard Slater; K H Andy Choo
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

10.  Translation of the FMR1 mRNA is not influenced by AGG interruptions.

Authors:  Anna L Ludwig; Christopher Raske; Flora Tassone; Dolores Garcia-Arocena; John W Hershey; Paul J Hagerman
Journal:  Nucleic Acids Res       Date:  2009-09-14       Impact factor: 16.971

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