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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

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Harvard

Zheng, W-Q, Pedersen, SV, Thompson, K, Bellacchio, E, French, CE, Munro, B, Pearson, TS, Vogt, J, Diodato, D, Diemer, T, Ernst, A, Horvath, R, Chitre, M, Ek, J, Wibrand, F, Grange, DK, Raymond, L, Zhou, X-L, Taylor, RW & Ostergaard, E 2021, 'Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease', Human Molecular Genetics. https://doi.org/10.1093/hmg/ddab257

APA

Zheng, W-Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X-L., Taylor, R. W., & Ostergaard, E. (2021). Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddab257

CBE

Zheng W-Q, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou X-L, Taylor RW, Ostergaard E. 2021. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddab257

MLA

Vancouver

Author

Zheng, Wen-Qiang ; Pedersen, Signe Vandal ; Thompson, Kyle ; Bellacchio, Emanuele ; French, Courtney E ; Munro, Benjamin ; Pearson, Toni S ; Vogt, Julie ; Diodato, Daria ; Diemer, Tue ; Ernst, Anja ; Horvath, Rita ; Chitre, Manali ; Ek, Jakob ; Wibrand, Flemming ; Grange, Dorothy K ; Raymond, Lucy ; Zhou, Xiao-Long ; Taylor, Robert W ; Ostergaard, Elsebet. / Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. I: Human Molecular Genetics. 2021.

Bibtex

@article{b726a0d9eaa0455d971a990b52b5213d,
title = "Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease",
abstract = "TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Additionally, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modelling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.",
author = "Wen-Qiang Zheng and Pedersen, {Signe Vandal} and Kyle Thompson and Emanuele Bellacchio and French, {Courtney E} and Benjamin Munro and Pearson, {Toni S} and Julie Vogt and Daria Diodato and Tue Diemer and Anja Ernst and Rita Horvath and Manali Chitre and Jakob Ek and Flemming Wibrand and Grange, {Dorothy K} and Lucy Raymond and Xiao-Long Zhou and Taylor, {Robert W} and Elsebet Ostergaard",
note = "{\textcopyright} The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.",
year = "2021",
month = sep,
day = "11",
doi = "10.1093/hmg/ddab257",
language = "English",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",

}

RIS

TY - JOUR

T1 - Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

AU - Zheng, Wen-Qiang

AU - Pedersen, Signe Vandal

AU - Thompson, Kyle

AU - Bellacchio, Emanuele

AU - French, Courtney E

AU - Munro, Benjamin

AU - Pearson, Toni S

AU - Vogt, Julie

AU - Diodato, Daria

AU - Diemer, Tue

AU - Ernst, Anja

AU - Horvath, Rita

AU - Chitre, Manali

AU - Ek, Jakob

AU - Wibrand, Flemming

AU - Grange, Dorothy K

AU - Raymond, Lucy

AU - Zhou, Xiao-Long

AU - Taylor, Robert W

AU - Ostergaard, Elsebet

N1 - © The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

PY - 2021/9/11

Y1 - 2021/9/11

N2 - TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Additionally, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modelling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.

AB - TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Additionally, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modelling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.

U2 - 10.1093/hmg/ddab257

DO - 10.1093/hmg/ddab257

M3 - Journal article

C2 - 34508595

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

ER -

ID: 67847240