Literature DB >> 23754215

A brief history of triplet repeat diseases.

Helen Budworth1, Cynthia T McMurray.   

Abstract

Instability of repetitive DNA sequences within the genome is associated with a number of human diseases. The expansion of trinucleotide repeats is recognized as a major cause of neurological and neuromuscular diseases, and progress in understanding the mutations over the last 20 years has been substantial. Here we provide a brief summary of progress with an emphasis on technical advances at different stages.

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Year:  2013        PMID： 23754215      PMCID： PMC3913379          DOI： 10.1007/978-1-62703-411-1_1

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN： 1064-3745


  93 in total

Review 1.  RNA-mediated neurodegeneration in repeat expansion disorders.

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

Review 2.  Repeat instability as the basis for human diseases and as a potential target for therapy.

Authors:  Arturo López Castel; John D Cleary; Christopher E Pearson
Journal:  Nat Rev Mol Cell Biol       Date:  2010-03       Impact factor: 94.444

3.  Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice.

Authors:  Agathi-Vassiliki Goula; Brian R Berquist; David M Wilson; Vanessa C Wheeler; Yvon Trottier; Karine Merienne
Journal:  PLoS Genet       Date:  2009-12-04       Impact factor: 5.917

Review 4.  Diagnosis and treatment of Friedreich ataxia: a European perspective.

Authors:  Jörg B Schulz; Sylvia Boesch; Katrin Bürk; Alexandra Dürr; Paola Giunti; Caterina Mariotti; Francoise Pousset; Ludger Schöls; Pierre Vankan; Massimo Pandolfo
Journal:  Nat Rev Neurol       Date:  2009-04       Impact factor: 42.937

5.  Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.

Authors:  Ella Dragileva; Audrey Hendricks; Allison Teed; Tammy Gillis; Edith T Lopez; Errol C Friedberg; Raju Kucherlapati; Winfried Edelmann; Kathryn L Lunetta; Marcy E MacDonald; Vanessa C Wheeler
Journal:  Neurobiol Dis       Date:  2008-09-30       Impact factor: 5.996

6.  Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice.

Authors:  Ryan L Boudreau; Jodi L McBride; Inês Martins; Shihao Shen; Yi Xing; Barrie J Carter; Beverly L Davidson
Journal:  Mol Ther       Date:  2009-02-24       Impact factor: 11.454

Review 7.  Dominant non-coding repeat expansions in human disease.

Authors:  K A Dick; J M Margolis; J W Day; L P W Ranum
Journal:  Genome Dyn       Date:  2006

Review 8.  Instability and chromatin structure of expanded trinucleotide repeats.

Authors:  Vincent Dion; John H Wilson
Journal:  Trends Genet       Date:  2009-06-18       Impact factor: 11.639

9.  Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.

Authors:  Meera Swami; Audrey E Hendricks; Tammy Gillis; Tiffany Massood; Jayalakshmi Mysore; Richard H Myers; Vanessa C Wheeler
Journal:  Hum Mol Genet       Date:  2009-05-23       Impact factor: 6.150

10.  CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Authors:  Randell T Libby; Katharine A Hagerman; Victor V Pineda; Rachel Lau; Diane H Cho; Sandy L Baccam; Michelle M Axford; John D Cleary; James M Moore; Bryce L Sopher; Stephen J Tapscott; Galina N Filippova; Christopher E Pearson; Albert R La Spada
Journal:  PLoS Genet       Date:  2008-11-14       Impact factor: 5.917
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  26 in total

Review 1.  The impact of FMR1 gene mutations on human reproduction and development: a systematic review.

Authors:  Vincenzo Noto; Conor Harrity; David Walsh; Kevin Marron
Journal:  J Assist Reprod Genet       Date:  2016-07-18       Impact factor: 3.412

Review 2.  Guidelines for DNA recombination and repair studies: Cellular assays of DNA repair pathways.

Authors:  Hannah L Klein; Giedrė Bačinskaja; Jun Che; Anais Cheblal; Rajula Elango; Anastasiya Epshtein; Devon M Fitzgerald; Belén Gómez-González; Sharik R Khan; Sandeep Kumar; Bryan A Leland; Léa Marie; Qian Mei; Judith Miné-Hattab; Alicja Piotrowska; Erica J Polleys; Christopher D Putnam; Elina A Radchenko; Anissia Ait Saada; Cynthia J Sakofsky; Eun Yong Shim; Mathew Stracy; Jun Xia; Zhenxin Yan; Yi Yin; Andrés Aguilera; Juan Lucas Argueso; Catherine H Freudenreich; Susan M Gasser; Dmitry A Gordenin; James E Haber; Grzegorz Ira; Sue Jinks-Robertson; Megan C King; Richard D Kolodner; Andrei Kuzminov; Sarah Ae Lambert; Sang Eun Lee; Kyle M Miller; Sergei M Mirkin; Thomas D Petes; Susan M Rosenberg; Rodney Rothstein; Lorraine S Symington; Pawel Zawadzki; Nayun Kim; Michael Lisby; Anna Malkova
Journal:  Microb Cell       Date:  2019-01-07

Review 3.  Towards precision medicine.

Authors:  Euan A Ashley
Journal:  Nat Rev Genet       Date:  2016-08-16       Impact factor: 53.242

Review 4.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

Review 5.  Neurotheranostics as personalized medicines.

Authors:  Bhavesh D Kevadiya; Brendan M Ottemann; Midhun Ben Thomas; Insiya Mukadam; Saumya Nigam; JoEllyn McMillan; Santhi Gorantla; Tatiana K Bronich; Benson Edagwa; Howard E Gendelman
Journal:  Adv Drug Deliv Rev       Date:  2018-10-26       Impact factor: 15.470

Review 6.  Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.

Authors:  Ginny R Morriss; Thomas A Cooper
Journal:  Hum Genet       Date:  2017-05-08       Impact factor: 4.132

7.  Structural Basis for Targeting T:T Mismatch with Triaminotriazine-Acridine Conjugate Induces a U-Shaped Head-to-Head Four-Way Junction in CTG Repeat DNA.

Authors:  Ching-Ming Chien; Pei-Ching Wu; Roshan Satange; Cheng-Chung Chang; Zi-Lun Lai; Lauren D Hagler; Steven C Zimmerman; Ming-Hon Hou
Journal:  J Am Chem Soc       Date:  2020-06-16       Impact factor: 15.419

Review 8.  Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease.

Authors:  Adewale Adegbuyiro; Faezeh Sedighi; Albert W Pilkington; Sharon Groover; Justin Legleiter
Journal:  Biochemistry       Date:  2017-02-21       Impact factor: 3.162

9.  Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.

Authors:  In K Cho; Charles A Easley; Anthony W S Chan
Journal:  J Assist Reprod Genet       Date:  2022-09-06       Impact factor: 3.357

10.  CAG repeat instability in embryonic stem cells and derivative spermatogenic cells of transgenic Huntington's disease monkey.

Authors:  Sujittra Khampang; Rangsun Parnpai; Wiriya Mahikul; Charles A Easley; In Ki Cho; Anthony W S Chan
Journal:  J Assist Reprod Genet       Date:  2021-02-20       Impact factor: 3.412
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