Literature DB >> 21646632

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

C Fratter1, P Raman, C L Alston, E L Blakely, K Craig, C Smith, J Evans, A Seller, B Czermin, M G Hanna, J Poulton, C Brierley, T G Staunton, P D Turnpenny, A M Schaefer, P F Chinnery, R Horvath, D M Turnbull, G S Gorman, R W Taylor.   

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Year:  2011        PMID： 21646632      PMCID： PMC3109879          DOI： 10.1212/WNL.0b013e31821e558b

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


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  7 in total

1.  155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands.

Authors:  Patrick F Chinnery; Massimo Zeviani
Journal:  Neuromuscul Disord       Date:  2007-12-21       Impact factor: 4.296

2.  A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Authors:  Henna Tyynismaa; Emil Ylikallio; Mehul Patel; Maria J Molnar; Ronald G Haller; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2009-08-06       Impact factor: 11.025

3.  Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Authors:  Alice Bourdon; Limor Minai; Valérie Serre; Jean-Philippe Jais; Emmanuelle Sarzi; Sophie Aubert; Dominique Chrétien; Pascale de Lonlay; Véronique Paquis-Flucklinger; Hirofumi Arakawa; Yusuke Nakamura; Arnold Munnich; Agnès Rötig
Journal:  Nat Genet       Date:  2007-05-07       Impact factor: 38.330

4.  A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Authors:  Gittan Kollberg; Niklas Darin; Karin Benan; Ali-Reza Moslemi; Sigurd Lindal; Már Tulinius; Anders Oldfors; Elisabeth Holme
Journal:  Neuromuscul Disord       Date:  2009-01-12       Impact factor: 4.296

5.  Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Authors:  Belén Bornstein; Estela Area; Kevin M Flanigan; Jaya Ganesh; Parul Jayakar; Kathryn J Swoboda; Jorida Coku; Ali Naini; Sara Shanske; Kurenai Tanji; Michio Hirano; Salvatore DiMauro
Journal:  Neuromuscul Disord       Date:  2008-05-27       Impact factor: 4.296

6.  Clinical and molecular features of mitochondrial DNA depletion syndromes.

Authors:  A Spinazzola; F Invernizzi; F Carrara; E Lamantea; A Donati; M Dirocco; I Giordano; M Meznaric-Petrusa; E Baruffini; I Ferrero; M Zeviani
Journal:  J Inherit Metab Dis       Date:  2008-12-27       Impact factor: 4.982

7.  The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Authors:  C Fratter; G S Gorman; J D Stewart; M Buddles; C Smith; J Evans; A Seller; J Poulton; M Roberts; M G Hanna; S Rahman; S E Omer; T Klopstock; B Schoser; C Kornblum; B Czermin; B Lecky; E L Blakely; K Craig; P F Chinnery; D M Turnbull; R Horvath; R W Taylor
Journal:  Neurology       Date:  2010-05-18       Impact factor: 9.910
  7 in total
  21 in total

Review 1.  Movement disorders in mitochondrial disease.

Authors:  Roula Ghaoui; Carolyn M Sue
Journal:  J Neurol       Date:  2018-01-06       Impact factor: 4.849

2.  Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

Authors:  Dario Ronchi; Alessio Di Fonzo; Weiqiang Lin; Andreina Bordoni; Changwei Liu; Elisa Fassone; Serena Pagliarani; Mafalda Rizzuti; Li Zheng; Massimiliano Filosto; Maria Teresa Ferrò; Michela Ranieri; Francesca Magri; Lorenzo Peverelli; Hongzhi Li; Yate-Ching Yuan; Stefania Corti; Monica Sciacco; Maurizio Moggio; Nereo Bresolin; Binghui Shen; Giacomo Pietro Comi
Journal:  Am J Hum Genet       Date:  2013-01-24       Impact factor: 11.025

Review 3.  Defects in mitochondrial DNA replication and human disease.

Authors:  William C Copeland
Journal:  Crit Rev Biochem Mol Biol       Date:  2012 Jan-Feb       Impact factor: 8.250

Review 4.  Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Authors:  Ayman W El-Hattab; Fernando Scaglia
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 5.  Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.

Authors:  Luisa Iommarini; Susana Peralta; Alessandra Torraco; Francisca Diaz
Journal:  Mitochondrion       Date:  2015-01-29       Impact factor: 4.160

6.  MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.

Authors:  Caterina Garone; Juan Carlos Rubio; Sarah E Calvo; Ali Naini; Kurenai Tanji; Salvatore Dimauro; Vamsi K Mootha; Michio Hirano
Journal:  Arch Neurol       Date:  2012-12

7.  A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Authors:  Kate Craig; Matthew J Young; Emma L Blakely; Matthew J Longley; Douglass M Turnbull; William C Copeland; Robert W Taylor
Journal:  Mitochondrion       Date:  2011-12-04       Impact factor: 4.160

8.  In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Authors:  Stefanie Bulst; Elke Holinski-Feder; Brendan Payne; Angela Abicht; Sabine Krause; Hanns Lochmüller; Patrick F Chinnery; Maggie C Walter; Rita Horvath
Journal:  Mol Genet Metab       Date:  2012-05-03       Impact factor: 4.797

9.  Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Authors:  Dario Ronchi; Caterina Garone; Andreina Bordoni; Purificacion Gutierrez Rios; Sarah E Calvo; Michela Ripolone; Michela Ranieri; Mafalda Rizzuti; Luisa Villa; Francesca Magri; Stefania Corti; Nereo Bresolin; Vamsi K Mootha; Maurizio Moggio; Salvatore DiMauro; Giacomo P Comi; Monica Sciacco
Journal:  Brain       Date:  2012-10-04       Impact factor: 13.501

10.  Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Authors:  Robert D S Pitceathly; Conrad Smith; Carl Fratter; Charlotte L Alston; Langping He; Kate Craig; Emma L Blakely; Julie C Evans; John Taylor; Zarfishan Shabbir; Marcus Deschauer; Ute Pohl; Mark E Roberts; Matthew C Jackson; Christopher A Halfpenny; Peter D Turnpenny; Peter W Lunt; Michael G Hanna; Andrew M Schaefer; Robert McFarland; Rita Horvath; Patrick F Chinnery; Douglass M Turnbull; Joanna Poulton; Robert W Taylor; Gráinne S Gorman
Journal:  Brain       Date:  2012-10-29       Impact factor: 13.501
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