Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

Autor: Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin

Publikováno v: PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)

Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo

Externí odkaz: https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10

The mitochondrial adenine nucleotide transporters in myogenesis

Autor: Adrian Flierl, Samuel E. Schriner, Saege Hancock, Pinar E. Coskun, Douglas C. Wallace

Publikováno v: Free Radical Biology and Medicine. 188:312-327

Adenine Nucleotide Translocator isoforms (ANTs) exchange ADP/ATP across the inner mitochondrial membrane, are also voltage-activated proton channels and regulate mitophagy and apoptosis. The ANT1 isoform predominates in heart and muscle while ANT2 is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3edff1e0cb614e9641fdf7b1f213e6ae
https://doi.org/10.1016/j.freeradbiomed.2022.05.022

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease

Autor: Doo Soon Im, Xianjun Dong, Patrizia Rizzu, Ming Jin, Yang Kevin Xiang, Peter Heutink, Trond Riise, Birgitt Schüle, Elizabeth Long, Marcie A. Glicksman, Dennis J. Selkoe, Clemens R. Scherzer, Bing Xu, Tim Bartels, Kristine M. Abo, Jean-Christophe Rochet, Barbara J. Caldarone, Joseph J. Locascio, Shuchi Mittal, David S. Park, Adrian Flierl, Anders Engeland, Vikram Khurana, Kjetil Bjornevik

Publikováno v: Science / Science now 357(6354), 891-898 (2017). doi:10.1126/science.aaf3934

Elucidating the risk of Parkinson's disease High expression of the α-synuclein gene ( SNCA ) is a risk factor for Parkinson's disease (PD), but certain drugs may mitigate this risk. Mittal et al. ran a small-molecule screen to identify compounds tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f215baa1933ff9c438ae9be5a0d56a2

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Autor: Saima Riazuddin, Zubair M. Ahmed, Anke Busch, Doris K. Wu, Richard Chang, Eddie Park, Vincent Huang, Xinjian Wang, Nada Al-Sheqaih, Arnold Starr, Sarah E. Mahl, Catherine Florentz, William G. Newman, Mariella Simon, Min-Xin Guan, Hagen Schwenzer, Thomas Dorn, Taosheng Huang, Antonio Davila, Prasanth Potluri, Sabiha Nazli, Ronghua Li, Elodie Richard, Tanveer A. Qaiser, Jose E. Abdenur, Vincent Procaccio, Jie Wu, Thomas B. Friedman, Sheikh Riazuddin, Rashmi S. Hegde, Douglas C. Wallace, Margret Yu, Adrian Flierl, Mohsin Shahzad, Saege Hancock, Marie Sissler, Jay Gargus, Shaheen N. Khan

Publikováno v: PLoS Genetics
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005097. ⟨10.1371/journal.pgen.1005097⟩
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Simon, M; Richard, EM; Wang, X; Shahzad, M; Huang, VH; Qaiser, TA; et al.(2015). Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome. PLoS Genetics, 11(3). doi: 10.1371/journal.pgen.1005097. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2dt5r3jw

Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae37166b1c7fa36b3f138be299e354dd
https://hal.archives-ouvertes.fr/hal-03365841

Pathophysiology of the MELAS 3243 Transition Mutation

Autor: Peter Seibel, Adrian Flierl, Heinz Reichmann

Publikováno v: Journal of Biological Chemistry. 272:27189-27196

Single base substitutions of the mitochondrial genome are associated with a variety of metabolic disorders. The myopathy, encephalopathy, lactic acidosis, stroke-like episodes syndrome, most frequently associated with an A to G transition mutation at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3edd22fa5c68b286895e9f43219755c
https://doi.org/10.1074/jbc.272.43.27189