Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert Kopajtich; Thomas J Nicholls; Joanna Rorbach; Metodi D Metodiev; Peter Freisinger; Hanna Mandel; Arnaud Vanlander; Daniele Ghezzi; Rosalba Carrozzo; Robert W Taylor; Klaus Marquard; Kei Murayama; Thomas Wieland; Thomas Schwarzmayr; Johannes A. Mayr; Sarah F Pearce; Christopher A Powell; Ann Saada; Akira Ohtake; Federica Invernizzi; Eleonora Lamantea; Ewen W Sommerville; Angela Pyle; Patrick F Chinnery; Ellen Crushell; Yasushi Okazaki; Masakazu Kohda; Yoshihito Kishita; Yoshimi Tokuzawa; Zahra Assouline; Marlène Rio; François Feillet; Bénédict Mousson de Camaret; Dominique Chretien; Arnold Munnich; Björn Menten; Tom Sante; Joél Smet; Luc Régal; Abraham Lorber; Asaad Khoury; Massimo Zeviani; Tim M Strom; Thomas Meitinger; Enrico S Bertini; Rudy Van Coster; Thomas Klopstock; Agnès Rötig; Tobias B Haack; Michal Minczuk; Holger Prokisch

doi:10.1016/j.ajhg.2014.10.017

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr (Co-author), Sarah F Pearce, Christopher A Powell, Ann Saada, Akira Ohtake, Federica InvernizziEleonora Lamantea, Ewen W Sommerville, Angela Pyle, Patrick F Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M Strom, Thomas Meitinger, Enrico S Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B Haack, Michal Minczuk, Holger Prokisch

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

120 Citations (Web of Science)

Original language	English
Pages (from-to)	708-720
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	95
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2014.10.017
Publication status	Published - 2014

Keywords

AFFECTED PATIENT FIBROBLASTS
TRANSFER-RNA MODIFICATION
RESPIRATORY-CHAIN
OXIDATIVE DEFECTS
GALACTOSE MEDIUM
SCREENING-TEST
CELLS
DEFICIENCIES
ANTICODON
MYOPATHY

Access to Document

10.1016/j.ajhg.2014.10.017

Cite this

Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., ... Prokisch, H. (2014). Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 95(6), 708-720. https://doi.org/10.1016/j.ajhg.2014.10.017

Kopajtich, Robert ; Nicholls, Thomas J ; Rorbach, Joanna et al. / Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. In: AMERICAN JOURNAL OF HUMAN GENETICS 2014 ; Vol. 95, No. 6. pp. 708-720.

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title = "Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.",

keywords = "AFFECTED PATIENT FIBROBLASTS, TRANSFER-RNA MODIFICATION, RESPIRATORY-CHAIN, OXIDATIVE DEFECTS, GALACTOSE MEDIUM, SCREENING-TEST, CELLS, DEFICIENCIES, ANTICODON, MYOPATHY",

author = "Robert Kopajtich and Nicholls, \{Thomas J\} and Joanna Rorbach and Metodiev, \{Metodi D\} and Peter Freisinger and Hanna Mandel and Arnaud Vanlander and Daniele Ghezzi and Rosalba Carrozzo and Taylor, \{Robert W\} and Klaus Marquard and Kei Murayama and Thomas Wieland and Thomas Schwarzmayr and Mayr, \{Johannes A.\} and Pearce, \{Sarah F\} and Powell, \{Christopher A\} and Ann Saada and Akira Ohtake and Federica Invernizzi and Eleonora Lamantea and Sommerville, \{Ewen W\} and Angela Pyle and Chinnery, \{Patrick F\} and Ellen Crushell and Yasushi Okazaki and Masakazu Kohda and Yoshihito Kishita and Yoshimi Tokuzawa and Zahra Assouline and Marl{\`e}ne Rio and Fran{\c c}ois Feillet and \{Mousson de Camaret\}, B{\'e}n{\'e}dict and Dominique Chretien and Arnold Munnich and Bj{\"o}rn Menten and Tom Sante and Jo{\'e}l Smet and Luc R{\'e}gal and Abraham Lorber and Asaad Khoury and Massimo Zeviani and Strom, \{Tim M\} and Thomas Meitinger and Bertini, \{Enrico S\} and \{Van Coster\}, Rudy and Thomas Klopstock and Agn{\`e}s R{\"o}tig and Haack, \{Tobias B\} and Michal Minczuk and Holger Prokisch",

note = "Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria",

year = "2014",

doi = "10.1016/j.ajhg.2014.10.017",

language = "English",

volume = "95",

pages = "708--720",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

publisher = "Elsevier ",

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Kopajtich, R, Nicholls, TJ, Rorbach, J, Metodiev, MD, Freisinger, P, Mandel, H, Vanlander, A, Ghezzi, D, Carrozzo, R, Taylor, RW, Marquard, K, Murayama, K, Wieland, T, Schwarzmayr, T, Mayr, JA, Pearce, SF, Powell, CA, Saada, A, Ohtake, A, Invernizzi, F, Lamantea, E, Sommerville, EW, Pyle, A, Chinnery, PF, Crushell, E, Okazaki, Y, Kohda, M, Kishita, Y, Tokuzawa, Y, Assouline, Z, Rio, M, Feillet, F, Mousson de Camaret, B, Chretien, D, Munnich, A, Menten, B, Sante, T, Smet, J, Régal, L, Lorber, A, Khoury, A, Zeviani, M, Strom, TM, Meitinger, T, Bertini, ES, Van Coster, R, Klopstock, T, Rötig, A, Haack, TB, Minczuk, M & Prokisch, H 2014, 'Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 95, no. 6, pp. 708-720. https://doi.org/10.1016/j.ajhg.2014.10.017

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. / Kopajtich, Robert; Nicholls, Thomas J; Rorbach, Joanna et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 95, No. 6, 2014, p. 708-720.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

AU - Kopajtich, Robert

AU - Nicholls, Thomas J

AU - Rorbach, Joanna

AU - Metodiev, Metodi D

AU - Freisinger, Peter

AU - Mandel, Hanna

AU - Vanlander, Arnaud

AU - Ghezzi, Daniele

AU - Carrozzo, Rosalba

AU - Taylor, Robert W

AU - Marquard, Klaus

AU - Murayama, Kei

AU - Wieland, Thomas

AU - Schwarzmayr, Thomas

AU - Mayr, Johannes A.

AU - Pearce, Sarah F

AU - Powell, Christopher A

AU - Saada, Ann

AU - Ohtake, Akira

AU - Invernizzi, Federica

AU - Lamantea, Eleonora

AU - Sommerville, Ewen W

AU - Pyle, Angela

AU - Chinnery, Patrick F

AU - Crushell, Ellen

AU - Okazaki, Yasushi

AU - Kohda, Masakazu

AU - Kishita, Yoshihito

AU - Tokuzawa, Yoshimi

AU - Assouline, Zahra

AU - Rio, Marlène

AU - Feillet, François

AU - Mousson de Camaret, Bénédict

AU - Chretien, Dominique

AU - Munnich, Arnold

AU - Menten, Björn

AU - Sante, Tom

AU - Smet, Joél

AU - Régal, Luc

AU - Lorber, Abraham

AU - Khoury, Asaad

AU - Zeviani, Massimo

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Bertini, Enrico S

AU - Van Coster, Rudy

AU - Klopstock, Thomas

AU - Rötig, Agnès

AU - Haack, Tobias B

AU - Minczuk, Michal

AU - Prokisch, Holger

N1 - Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria

PY - 2014

Y1 - 2014

KW - AFFECTED PATIENT FIBROBLASTS

KW - TRANSFER-RNA MODIFICATION

KW - RESPIRATORY-CHAIN

KW - OXIDATIVE DEFECTS

KW - GALACTOSE MEDIUM

KW - SCREENING-TEST

KW - CELLS

KW - DEFICIENCIES

KW - ANTICODON

KW - MYOPATHY

U2 - 10.1016/j.ajhg.2014.10.017

DO - 10.1016/j.ajhg.2014.10.017

M3 - Original Article

C2 - 25434004

SN - 0002-9297

VL - 95

SP - 708

EP - 720

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 6

ER -

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. AMERICAN JOURNAL OF HUMAN GENETICS . 2014;95(6):708-720. doi: 10.1016/j.ajhg.2014.10.017