Literature DB >> 24198295

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Charlotte L Alston1, Andrew M Schaefer, Pravrutha Raman, Nicola Solaroli, Kim J Krishnan, Emma L Blakely, Langping He, Kate Craig, Mark Roberts, Aashish Vyas, John Nixon, Rita Horvath, Douglass M Turnbull, Anna Karlsson, Grainne S Gorman, Robert W Taylor.   

Abstract

Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1.)

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Year:  2013        PMID： 24198295      PMCID： PMC3854830          DOI： 10.1212/01.wnl.0000436931.94291.e6

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


  7 in total

1.  Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Authors:  Henna Tyynismaa; Ren Sun; Sofia Ahola-Erkkilä; Henrikki Almusa; Rosanna Pöyhönen; Mari Korpela; Jari Honkaniemi; Pirjo Isohanni; Anders Paetau; Liya Wang; Anu Suomalainen
Journal:  Hum Mol Genet       Date:  2011-09-21       Impact factor: 6.150

2.  Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

Authors:  A Béhin; C Jardel; K G Claeys; J Fagart; M Louha; N B Romero; P Laforêt; B Eymard; A Lombès
Journal:  Neurology       Date:  2012-02-15       Impact factor: 9.910

3.  Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Authors:  A Saada; A Shaag; H Mandel; Y Nevo; S Eriksson; O Elpeleg
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

4.  Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Authors:  Nicole Lesko; Karin Naess; Rolf Wibom; Nicola Solaroli; Inger Nennesmo; Ulrika von Döbeln; Anna Karlsson; Nils-Göran Larsson
Journal:  Neuromuscul Disord       Date:  2010-01-18       Impact factor: 4.296

5.  Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Authors:  Langping He; Patrick F Chinnery; Steve E Durham; Emma L Blakely; Theresa M Wardell; Gillian M Borthwick; Robert W Taylor; Douglass M Turnbull
Journal:  Nucleic Acids Res       Date:  2002-07-15       Impact factor: 16.971

6.  Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Authors:  Emma Blakely; Langping He; Julie L Gardner; Gavin Hudson; John Walter; Imelda Hughes; Douglass M Turnbull; Robert W Taylor
Journal:  Neuromuscul Disord       Date:  2008-05-27       Impact factor: 4.296

7.  TK2 mutation presenting as indolent myopathy.

Authors:  Carmen Paradas; Purificacion Gutiérrez Ríos; Eloy Rivas; Pilar Carbonell; Michio Hirano; Salvatore DiMauro
Journal:  Neurology       Date:  2013-01-09       Impact factor: 9.910
  7 in total
  11 in total

1.  Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Authors:  Ewen W Sommerville; Yi Shiau Ng; Charlotte L Alston; Cristina Dallabona; Micol Gilberti; Langping He; Charlotte Knowles; Sophie L Chin; Andrew M Schaefer; Gavin Falkous; David Murdoch; Cheryl Longman; Marianne de Visser; Laurence A Bindoff; John M Rawles; John C S Dean; Richard K Petty; Maria E Farrugia; Tobias B Haack; Holger Prokisch; Robert McFarland; Douglass M Turnbull; Claudia Donnini; Robert W Taylor; Gráinne S Gorman
Journal:  JAMA Neurol       Date:  2017-06-01       Impact factor: 18.302

2.  Mitochondrial dysfunction is associated with lipid metabolism disorder and upregulation of angiotensin-converting enzyme 2.

Authors:  Qian Zhao; Xiaoshan Zhou; Raoul Kuiper; Sophie Curbo; Anna Karlsson
Journal:  PLoS One       Date:  2022-06-29       Impact factor: 3.752

Review 3.  Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

Authors:  Naghia Ahmed; Dario Ronchi; Giacomo Pietro Comi
Journal:  Int J Mol Sci       Date:  2015-08-05       Impact factor: 5.923

Review 4.  MtDNA-maintenance defects: syndromes and genes.

Authors:  Carlo Viscomi; Massimo Zeviani
Journal:  J Inherit Metab Dis       Date:  2017-03-21       Impact factor: 4.982

5.  Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Authors:  Rachel L Boal; Yi Shiau Ng; Sarah J Pickett; Andrew M Schaefer; Catherine Feeney; Alexandra Bright; Robert W Taylor; Doug M Turnbull; Grainne S Gorman; Tim Cheetham; Robert McFarland
Journal:  J Clin Endocrinol Metab       Date:  2019-06-01       Impact factor: 5.958

6.  Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Authors:  Cristina Domínguez-González; Aurelio Hernández-Laín; Eloy Rivas; Ana Hernández-Voth; Javier Sayas Catalán; Roberto Fernández-Torrón; Carmen Fuiza-Luces; Jorge García García; Germán Morís; Montse Olivé; Frances Miralles; Jordi Díaz-Manera; Candela Caballero; Bosco Méndez-Ferrer; Ramon Martí; Elena García Arumi; María Carmen Badosa; Jesús Esteban; Cecilia Jimenez-Mallebrera; Alberto Blazquez Encinar; Joaquín Arenas; Michio Hirano; Miguel Ángel Martin; Carmen Paradas
Journal:  Orphanet J Rare Dis       Date:  2019-05-06       Impact factor: 4.303

7.  Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.

Authors:  Cora Blázquez-Bermejo; David Molina-Granada; Ferran Vila-Julià; Daniel Jiménez-Heis; Xiaoshan Zhou; Javier Torres-Torronteras; Anna Karlsson; Ramon Martí; Yolanda Cámara
Journal:  EBioMedicine       Date:  2019-07-24       Impact factor: 8.143

8.  MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Authors:  Ilaria Dalla Rosa; Yolanda Cámara; Romina Durigon; Chloe F Moss; Sara Vidoni; Gokhan Akman; Lilian Hunt; Mark A Johnson; Sarah Grocott; Liya Wang; David R Thorburn; Michio Hirano; Joanna Poulton; Robert W Taylor; Greg Elgar; Ramon Martí; Peter Voshol; Ian J Holt; Antonella Spinazzola
Journal:  PLoS Genet       Date:  2016-01-13       Impact factor: 5.917

Review 9.  Mitochondrial disease: genetics and management.

Authors:  Yi Shiau Ng; Doug M Turnbull
Journal:  J Neurol       Date:  2015-08-28       Impact factor: 4.849

10.  Retrospective natural history of thymidine kinase 2 deficiency.

Authors:  Caterina Garone; Robert W Taylor; Andrés Nascimento; Joanna Poulton; Carl Fratter; Cristina Domínguez-González; Julie C Evans; Mariana Loos; Pirjo Isohanni; Anu Suomalainen; Dipak Ram; M Imelda Hughes; Robert McFarland; Emanuele Barca; Carlos Lopez Gomez; Sandeep Jayawant; Neil D Thomas; Adnan Y Manzur; Karin Kleinsteuber; Miguel A Martin; Timothy Kerr; Grainne S Gorman; Ewen W Sommerville; Patrick F Chinnery; Monika Hofer; Christoph Karch; Jeffrey Ralph; Yolanda Cámara; Marcos Madruga-Garrido; Jana Domínguez-Carral; Carlos Ortez; Sonia Emperador; Julio Montoya; Anupam Chakrapani; Joshua F Kriger; Robert Schoenaker; Bruce Levin; John L P Thompson; Yuelin Long; Shamima Rahman; Maria Alice Donati; Salvatore DiMauro; Michio Hirano
Journal:  J Med Genet       Date:  2018-03-30       Impact factor: 6.318
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