Literature DB >> 16943369

POLG1 in idiopathic Parkinson disease.

W Tiangyou1, G Hudson, D Ghezzi, G Ferrari, M Zeviani, D J Burn, P F Chinnery.   

Abstract

We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.

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Year:  2006        PMID： 16943369     DOI： 10.1212/01.wnl.0000238963.07425.d5

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  16 in total

1.  Screening for POLG1 mutations in a Southern Italian ataxia population.

Authors:  C Criscuolo; P Mancini; S Ammendola; D Cicala; S Banfi; G De Michele; A Filla
Journal:  J Neurol       Date:  2007-12-19       Impact factor: 4.849

2.  The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.

Authors:  Maria A Graziewicz; Rachelle J Bienstock; William C Copeland
Journal:  Hum Mol Genet       Date:  2007-08-27       Impact factor: 6.150

Review 3.  Mitochondrial dysfunction in the limelight of Parkinson's disease pathogenesis.

Authors:  Rebecca Banerjee; Anatoly A Starkov; M Flint Beal; Bobby Thomas
Journal:  Biochim Biophys Acta       Date:  2008-11-14

4.  Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.

Authors:  S Ylönen; P Ylikotila; A Siitonen; S Finnilä; J Autere; K Majamaa
Journal:  J Neurol       Date:  2013-12       Impact factor: 4.849

5.  POLG1 polyglutamine tract variants associated with Parkinson's disease.

Authors:  Johanna Eerola; Petri T Luoma; Terhi Peuralinna; Sonja Scholz; Coro Paisan-Ruiz; Anu Suomalainen; Andrew B Singleton; Pentti J Tienari
Journal:  Neurosci Lett       Date:  2010-04-24       Impact factor: 3.046

6.  Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Authors:  Kazunori Sato; Ichiro Yabe; Hiroaki Yaguchi; Fumihito Nakano; Yasuyuki Kunieda; Shinji Saitoh; Hidenao Sasaki
Journal:  J Neurol       Date:  2011-02-08       Impact factor: 4.849

7.  [Colorectal cancer 2D-proteomics: identification of altered protein expression].

Authors:  G S Krasnov; N Iu Oparina; S L Khankin; T D Mashkova; A N Ershov; O G Zatsepina; V L Karpov; S F Beresten'
Journal:  Mol Biol (Mosk)       Date:  2009 Mar-Apr

8.  Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Authors:  Lee-Jun C Wong; Robert K Naviaux; Nicola Brunetti-Pierri; Qing Zhang; Eric S Schmitt; Cavatina Truong; Margherita Milone; Bruce H Cohen; Beverly Wical; Jaya Ganesh; Alice A Basinger; Barbara K Burton; Kathryn Swoboda; Donald L Gilbert; Adeline Vanderver; Russell P Saneto; Bruno Maranda; Georgianne Arnold; Jose E Abdenur; Paula J Waters; William C Copeland
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878

Review 9.  Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.

Authors:  Karen L DeBalsi; Kirsten E Hoff; William C Copeland
Journal:  Ageing Res Rev       Date:  2016-04-30       Impact factor: 10.895

10.  Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Authors:  Keshav K Singh; Vanniarajan Ayyasamy; Kjerstin M Owens; Manika Sapru Koul; Marija Vujcic
Journal:  J Hum Genet       Date:  2009-07-24       Impact factor: 3.172
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