Prague Med. Rep. 2013, 114, 139-153

https://doi.org/10.14712/23362936.2014.16

Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

S. Mazurová1, M. Tesařová1, M. Magner1, H. Houšťková2, H. Hansíková1, J. Augustínová1, V. Tomek3,  A. Vondráčková1, J. Zeman1, Tomáš Honzík1,*

1Department of Pediatrics and  Adolescent Medicine, First Faculty of Medicine, Charles University in  Prague and General University Hospital in  Prague, Prague, Czech Republic
2Department of Pediatrics, First Faculty of Medicine, Charles University in  Prague and Thomayer Hospital, Prague, Czech Republic
3Children’s Heart Center, University Hospital Motol, Prague, Czech Republic

Crossref Cited-by Linking

  • Towheed Atif, Goldstein Amy C.: Genetics of Mitochondrial Cardiomyopathy. Curr Cardiovasc Risk Rep 2023, 17, 49. <https://doi.org/10.1007/s12170-023-00715-4>
  • de Boer Lonneke, Cambi Alessandra, Verhagen Lilly M., de Haas Paola, van Karnebeek Clara D.M., Blau Nenad, Ferreira Carlos R.: Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. Molecular Genetics and Metabolism 2023, 139, 107582. <https://doi.org/10.1016/j.ymgme.2023.107582>
  • Mazzaccara Cristina, Mirra Bruno, Barretta Ferdinando, Caiazza Martina, Lombardo Barbara, Scudiero Olga, Tinto Nadia, Limongelli Giuseppe, Frisso Giulia: Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes. IJMS 2021, 22, 5742. <https://doi.org/10.3390/ijms22115742>
  • Garlid Anders O., Schaffer Calvin T., Kim Jaewoo, Bhatt Hirsh, Guevara-Gonzalez Vladimir, Ping Peipei: TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. Gene 2020, 726, 144148. <https://doi.org/10.1016/j.gene.2019.144148>
  • Watanabe Louis P., Riddle Nicole C.: New opportunities: Drosophila as a model system for exercise research. Journal of Applied Physiology 2019, 127, 482. <https://doi.org/10.1152/japplphysiol.00394.2019>
  • Imai-Okazaki Atsuko, Kishita Yoshihito, Kohda Masakazu, Yatsuka Yukiko, Hirata Tomoko, Mizuno Yosuke, Harashima Hiroko, Hirono Keiichi, Ichida Fukiko, Noguchi Atsuko, Yoshida Masayuki, Tokorodani Chiho, Nishiuchi Ritsuo, Takeda Atsuhito, Nakaya Akihiro, Sakata Yasushi, Murayama Kei, Ohtake Akira, Okazaki Yasushi: Barth Syndrome: Different Approaches to Diagnosis. The Journal of Pediatrics 2018, 193, 256. <https://doi.org/10.1016/j.jpeds.2017.09.075>
  • Mazurova Stella, Magner Martin, Kucerova-Vidrova Vendula, Vondrackova Alzbeta, Stranecky Viktor, Pristoupilova Anna, Zamecnik Josef, Hansikova Hana, Zeman Jiri, Tesarova Marketa, Honzik Tomas: Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. Cardiol Young 2017, 27, 936. <https://doi.org/10.1017/S1047951116001876>
  • Borna Nurun N, Kishita Yoshihito, Ishikawa Kaori, Nakada Kazuto, Hayashi Jun-Ichi, Tokuzawa Yoshimi, Kohda Masakazu, Nyuzuki Hiromi, Yamashita-Sugahara Yzumi, Nasu Takashi, Takeda Atsuhito, Murayama Kei, Ohtake Akira, Okazaki Yasushi: A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. J Hum Genet 2017, 62, 539. <https://doi.org/10.1038/jhg.2016.165>
  • Finsterer Josef, Stöllberger Claudia, Maeztu Concha: Sudden cardiac death in neuromuscular disorders. International Journal of Cardiology 2016, 203, 508. <https://doi.org/10.1016/j.ijcard.2015.10.176>
  • Yoo Tae Yeon, Kim Mock Ryeon, Son Jae Sung, Lee Ran, Bae Sun Hwan, Chung Sochung, Kim Kyo Sun, Seong Moon-Woo, Park Sung Sup: Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. J Cardiovasc Ultrasound 2016, 24, 153. <https://doi.org/10.4250/jcu.2016.24.2.153>
  • Saunders Carol, Smith Laurie, Wibrand Flemming, Ravn Kirstine, Bross Peter, Thiffault Isabelle, Christensen Mette, Atherton Andrea, Farrow Emily, Miller Neil, Kingsmore Stephen F., Ostergaard Elsebet: CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria. The American Journal of Human Genetics 2015, 96, 258. <https://doi.org/10.1016/j.ajhg.2014.12.020>
Crossref Cited-by Linking logo