Literature DB >> 23473314

The unstable repeats--three evolving faces of neurological disease.

David L Nelson1, Harry T Orr, Stephen T Warren.   

Abstract

Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID: 23473314      PMCID: PMC3608403          DOI: 10.1016/j.neuron.2013.02.022

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  233 in total

1.  Chemical induction of mGluR5- and protein synthesis--dependent long-term depression in hippocampal area CA1.

Authors:  K M Huber; J C Roder; M F Bear
Journal:  J Neurophysiol       Date:  2001-07       Impact factor: 2.714

Review 2.  Neurodegeneration the RNA way.

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

3.  Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.

Authors:  Rahul N Kanadia; Jihae Shin; Yuan Yuan; Stuart G Beattie; Thurman M Wheeler; Charles A Thornton; Maurice S Swanson
Journal:  Proc Natl Acad Sci U S A       Date:  2006-07-24       Impact factor: 11.205

4.  Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles.

Authors:  Edouard W Khandjian; Marc-Etienne Huot; Sandra Tremblay; Laetitia Davidovic; Rachid Mazroui; Barbara Bardoni
Journal:  Proc Natl Acad Sci U S A       Date:  2004-08-25       Impact factor: 11.205

5.  SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.

Authors:  E N Burright; H B Clark; A Servadio; T Matilla; R M Feddersen; W S Yunis; L A Duvick; H Y Zoghbi; H T Orr
Journal:  Cell       Date:  1995-09-22       Impact factor: 41.582

6.  FMR1 protein: conserved RNP family domains and selective RNA binding.

Authors:  C T Ashley; K D Wilkinson; D Reines; S T Warren
Journal:  Science       Date:  1993-10-22       Impact factor: 47.728

7.  Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome.

Authors:  J R Brouwer; E Severijnen; F H de Jong; D Hessl; R J Hagerman; B A Oostra; R Willemsen
Journal:  Psychoneuroendocrinology       Date:  2008-05-12       Impact factor: 4.905

8.  Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

Authors:  Peng Jin; Ranhui Duan; Abrar Qurashi; Yunlong Qin; Donghua Tian; Tracie C Rosser; Huijie Liu; Yue Feng; Stephen T Warren
Journal:  Neuron       Date:  2007-08-16       Impact factor: 17.173

9.  AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Authors:  Carolyn M Yrigollen; Blythe Durbin-Johnson; Louise Gane; David L Nelson; Randi Hagerman; Paul J Hagerman; Flora Tassone
Journal:  Genet Med       Date:  2012-04-12       Impact factor: 8.822

10.  Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

Authors:  K L Taneja; M McCurrach; M Schalling; D Housman; R H Singer
Journal:  J Cell Biol       Date:  1995-03       Impact factor: 10.539

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  95 in total

1.  Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications.

Authors:  Thang T Pham; Jun Yin; John S Eid; Evan Adams; Regina Lam; Stephen W Turner; Erick W Loomis; Jun Yi Wang; Paul J Hagerman; Jeremiah W Hanes
Journal:  Mol Genet Genomics       Date:  2016-01-29       Impact factor: 3.291

2.  Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.

Authors:  David Jakubosky; Erin N Smith; Matteo D'Antonio; Marc Jan Bonder; William W Young Greenwald; Agnieszka D'Antonio-Chronowska; Hiroko Matsui; Oliver Stegle; Stephen B Montgomery; Christopher DeBoever; Kelly A Frazer
Journal:  Nat Commun       Date:  2020-06-10       Impact factor: 14.919

Review 3.  Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.

Authors:  John Douglas Cleary; Laura P W Ranum
Journal:  Curr Opin Genet Dev       Date:  2014-05-22       Impact factor: 5.578

4.  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

5.  Toxic RNA as a driver of disease in a common form of ALS and dementia.

Authors:  Harry T Orr
Journal:  Proc Natl Acad Sci U S A       Date:  2013-04-29       Impact factor: 11.205

Review 6.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 7.  Targeting RNA in mammalian systems with small molecules.

Authors:  Anita Donlic; Amanda E Hargrove
Journal:  Wiley Interdiscip Rev RNA       Date:  2018-05-03       Impact factor: 9.957

8.  Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice.

Authors:  A J Renoux; K J Sala-Hamrick; N M Carducci; M Frazer; K E Halsey; M A Sutton; D F Dolan; G G Murphy; P K Todd
Journal:  Behav Brain Res       Date:  2014-03-19       Impact factor: 3.332

Review 9.  Non-coding RNAs as drug targets.

Authors:  Masayuki Matsui; David R Corey
Journal:  Nat Rev Drug Discov       Date:  2016-07-22       Impact factor: 84.694

10.  MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain.

Authors:  Marianne Goodwin; Apoorva Mohan; Ranjan Batra; Kuang-Yung Lee; Konstantinos Charizanis; Francisco José Fernández Gómez; Sabiha Eddarkaoui; Nicolas Sergeant; Luc Buée; Takashi Kimura; H Brent Clark; Joline Dalton; Kenji Takamura; Sebastien M Weyn-Vanhentenryck; Chaolin Zhang; Tammy Reid; Laura P W Ranum; John W Day; Maurice S Swanson
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

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