Literature DB >> 19762913

A variable neurodegenerative phenotype with polymerase gamma mutation.

S Stricker, H Prüss, R Horvath, E Baruffini, T Lodi, E Siebert, M Endres, R Zschenderlein, A Meisel.   

Abstract

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Year:  2009        PMID： 19762913     DOI： 10.1136/jnnp.2008.166066

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  8 in total

1.  Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Authors:  Nichola Z Lax; Roger G Whittaker; Philippa D Hepplewhite; Amy K Reeve; Emma L Blakely; Evelyn Jaros; Paul G Ince; Robert W Taylor; Peter R W Fawcett; Doug M Turnbull
Journal:  Brain       Date:  2011-12-20       Impact factor: 13.501

2.  Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.

Authors:  Enrico Baruffini; Fausta Serafini; Iliana Ferrero; Tiziana Lodi
Journal:  PLoS One       Date:  2012-03-28       Impact factor: 3.240

3.  Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Authors:  Magdalena Kaliszewska; Jakub Kruszewski; Biruta Kierdaszuk; Anna Kostera-Pruszczyk; Monika Nojszewska; Anna Łusakowska; Joel Vizueta; Dorota Sabat; Dorota Lutyk; Michał Lower; Dorota Piekutowska-Abramczuk; Aneta Kaniak-Golik; Ewa Pronicka; Anna Kamińska; Ewa Bartnik; Paweł Golik; Katarzyna Tońska
Journal:  Hum Genet       Date:  2015-06-16       Impact factor: 4.132

4.  Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Authors:  Enrico Baruffini; Jessica Ferrari; Cristina Dallabona; Claudia Donnini; Tiziana Lodi
Journal:  Mitochondrion       Date:  2014-11-18       Impact factor: 4.160

Review 5.  DNA polymerase γ and disease: what we have learned from yeast.

Authors:  Tiziana Lodi; Cristina Dallabona; Cecilia Nolli; Paola Goffrini; Claudia Donnini; Enrico Baruffini
Journal:  Front Genet       Date:  2015-03-17       Impact factor: 4.599

6.  POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Authors:  Pei-Chen Hsieh; Chun-Chieh Wang; Chia-Lung Tsai; Yuan-Ming Yeh; Yun Shien Lee; Yih-Ru Wu
Journal:  Brain Behav       Date:  2019-04-02       Impact factor: 2.708

Review 7.  The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.

Authors:  Camilla Ceccatelli Berti; Giulia di Punzio; Cristina Dallabona; Enrico Baruffini; Paola Goffrini; Tiziana Lodi; Claudia Donnini
Journal:  Genes (Basel)       Date:  2021-02-20       Impact factor: 4.096

Review 8.  Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Authors:  Alexandru Ionut Gilea; Camilla Ceccatelli Berti; Martina Magistrati; Giulia di Punzio; Paola Goffrini; Enrico Baruffini; Cristina Dallabona
Journal:  Genes (Basel)       Date:  2021-11-24       Impact factor: 4.096
  8 in total

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