Literature DB >> 32154839

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.

Wai Yan Yau1, Mafalda Raposo2,3, Conceição Bettencourt4,5, Robyn Labrum6, João Vasconcelos7, Michael H Parkinson8, Paola Giunti8, Nicholas W Wood1,6, Manuela Lima2,3, Henry Houlden1,6.   

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Year:  2020        PMID： 32154839      PMCID： PMC7174052          DOI： 10.1093/brain/awaa043

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  12 in total

Review 1.  The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Authors:  Luis Ruano; Claudia Melo; M Carolina Silva; Paula Coutinho
Journal:  Neuroepidemiology       Date:  2014-03-05       Impact factor: 3.282

2.  DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells.

Authors:  Anasheh Halabi; Scott Ditch; Jeffrey Wang; Ed Grabczyk
Journal:  J Biol Chem       Date:  2012-07-11       Impact factor: 5.157

3.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

4.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

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.  MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.

Authors:  Michael Flower; Vilija Lomeikaite; Marc Ciosi; Sarah Cumming; Fernando Morales; Kitty Lo; Davina Hensman Moss; Lesley Jones; Peter Holmans; Darren G Monckton; Sarah J Tabrizi
Journal:  Brain       Date:  2019-06-19       Impact factor: 13.501

7.  Determinants of onset age in Friedreich's ataxia.

Authors:  G De Michele; A Filla; C Criscuolo; V Scarano; F Cavalcanti; L Pianese; A Monticelli; S Cocozza
Journal:  J Neurol       Date:  1998-03       Impact factor: 4.849

8.  DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Authors:  Conceição Bettencourt; Davina Hensman-Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas-Gómez; Lizbeth Esmeralda García-Velázquez; María Elisa Alonso-Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; Peter Holmans; Henry Houlden; Sarah J Tabrizi; Lesley Jones
Journal:  Ann Neurol       Date:  2016-05-06       Impact factor: 10.422

9.  MutSβ promotes trinucleotide repeat expansion by recruiting DNA polymerase β to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis.

Authors:  Jinzhen Guo; Liya Gu; Michael Leffak; Guo-Min Li
Journal:  Cell Res       Date:  2016-06-03       Impact factor: 25.617

10.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
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