Literature DB >> 29976739

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Frances Smith1, Sila Hopton2, Cristina Dallabona3, Micol Gilberti3, Gavin Falkous2, Fiona Norwood4, Claudia Donnini3, Gráinne S Gorman2, Barnaby Clark5,6, Robert W Taylor2, Austin G Kulasekararaj7.   

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Year:  2018        PMID: 29976739      PMCID: PMC6269300          DOI: 10.3324/haematol.2018.194464

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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  16 in total

1.  Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Authors:  Lisa G Riley; Sandra Cooper; Peter Hickey; Joëlle Rudinger-Thirion; Matthew McKenzie; Alison Compton; Sze Chern Lim; David Thorburn; Michael T Ryan; Richard Giegé; Melanie Bahlo; John Christodoulou
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

2.  Luspatercept for the treatment of anaemia in patients with lower-risk myelodysplastic syndromes (PACE-MDS): a multicentre, open-label phase 2 dose-finding study with long-term extension study.

Authors:  Uwe Platzbecker; Ulrich Germing; Katharina S Götze; Philipp Kiewe; Karin Mayer; Jörg Chromik; Markus Radsak; Thomas Wolff; Xiaosha Zhang; Abderrahmane Laadem; Matthew L Sherman; Kenneth M Attie; Aristoteles Giagounidis
Journal:  Lancet Oncol       Date:  2017-09-01       Impact factor: 41.316

3.  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

4.  Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

Authors:  Mario Cazzola; Luca Malcovati
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2015

5.  A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.

Authors:  Anna Ardissone; Eleonora Lamantea; Jade Quartararo; Cristina Dallabona; Franco Carrara; Isabella Moroni; Claudia Donnini; Barbara Garavaglia; Massimo Zeviani; Graziella Uziel
Journal:  JIMD Rep       Date:  2015-02-01

6.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

7.  Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Authors:  Syeda T Ahmed; Charlotte L Alston; Sila Hopton; Langping He; Iain P Hargreaves; Gavin Falkous; Monika Oláhová; Robert McFarland; Doug M Turnbull; Mariana C Rocha; Robert W Taylor
Journal:  Sci Rep       Date:  2017-11-15       Impact factor: 4.379

8.  Transforming growth factor-β superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis.

Authors:  Rajasekhar N V S Suragani; Samuel M Cadena; Sharon M Cawley; Dianne Sako; Dianne Mitchell; Robert Li; Monique V Davies; Mark J Alexander; Matthew Devine; Kenneth S Loveday; Kathryn W Underwood; Asya V Grinberg; John D Quisel; Rajesh Chopra; R Scott Pearsall; Jasbir Seehra; Ravindra Kumar
Journal:  Nat Med       Date:  2014-03-23       Impact factor: 53.440

9.  A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Authors:  Rojeen Shahni; Yehani Wedatilake; Maureen A Cleary; Keith J Lindley; Keith R Sibson; Shamima Rahman
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802

10.  Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Authors:  Lisa G Riley; Minal J Menezes; Joëlle Rudinger-Thirion; Rachael Duff; Pascale de Lonlay; Agnes Rotig; Michel C Tchan; Mark Davis; Sandra T Cooper; John Christodoulou
Journal:  Orphanet J Rare Dis       Date:  2013-12-17       Impact factor: 4.123

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  3 in total

Review 1.  Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

Authors:  Sonia Figuccia; Andrea Degiorgi; Camilla Ceccatelli Berti; Enrico Baruffini; Cristina Dallabona; Paola Goffrini
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

Review 2.  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

3.  Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.

Authors:  Qingxia Fang; Jingyang Lin; Liang Gao; Ruolang Pan; Xiaochun Zheng
Journal:  Cancer Biol Ther       Date:  2022-12-31       Impact factor: 4.875

  3 in total

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