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Select item 110935991.

The alanyl-tRNA synthetase AARS1 moonlights as a lactyltransferase to promote YAP signaling in gastric cancer

Junyi Ju, Hui Zhang, Moubin Lin, Zifeng Yan, Liwei An, Zhifa Cao, Dandan Geng, Jingwu Yue, Yang Tang, Luyang Tian, Fan Chen, Yi Han, Wenjia Wang, Shimin Zhao, Shi Jiao, Zhaocai Zhou

J Clin Invest. 2024 May 15; 134(10): e174587. Published online 2024 Mar 21. doi: 10.1172/JCI174587

PMCID:: PMC11093599

Abstract Article PDF–13M

Select item 102817502.

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

Rebecca Meyer-Schuman, Sheila Marte, Tyler J Smith, Shawna M E Feely, Marina Kennerson, Garth Nicholson, Mike E Shy, Kristin S Koutmou, Anthony Antonellis

Hum Mol Genet. 2023 Jul 1; 32(13): 2177–2191. Published online 2023 Apr 3. doi: 10.1093/hmg/ddad054

PMCID:: PMC10281750

Abstract Article PDF–1.5M

Select item 93770873.

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

Helle Høyer, Øyvind L. Busk, Q. Ying. Esbensen, Oddveig Røsby, Hilde T. Hilmarsen, Michael B. Russell, Tuula A. Nyman, Geir J. Braathen, Hilde L. Nilsen

BMC Neurol. 2022; 22: 299. Published online 2022 Aug 15. doi: 10.1186/s12883-022-02828-6

PMCID:: PMC9377087

Abstract Article PDF–2.0M

Select item 64511234.

The G3-U70-independent tRNA recognition by human mitochondrial alanyl-tRNA synthetase

Qi-Yu Zeng, Gui-Xin Peng, Guang Li, Jing-Bo Zhou, Wen-Qiang Zheng, Mei-Qin Xue, En-Duo Wang, Xiao-Long Zhou

Nucleic Acids Res. 2019 Apr 8; 47(6): 3072–3085. Published online 2019 Feb 14. doi: 10.1093/nar/gkz078

PMCID:: PMC6451123

Abstract Article PDF–3.5M

Select item 51671785.

Two crystal structures reveal design for repurposing the C-Ala domain of human AlaRS

Litao Sun, Youngzee Song, David Blocquel, Xiang-Lei Yang, Paul Schimmel

Proc Natl Acad Sci U S A. 2016 Dec 13; 113(50): 14300–14305. Published online 2016 Nov 28. doi: 10.1073/pnas.1617316113

PMCID:: PMC5167178

Abstract Article PDF–1.3M

Select item 45393606.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M. Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath

J Neurol. 2015; 262(8): 1899–1908. Published online 2015 Jun 2. doi: 10.1007/s00415-015-7778-4

PMCID:: PMC4539360

Abstract Article PDF–1.0M

Select item 43851837.

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Cas Simons, Laurie B. Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L.P. Murphy, Joanna Crawford, Sarah H. Evans, Scott Topper, Matthew T. Whitehead, John M. Schreiber, Kimberly A. Chapman, Cyndi Tifft, Katrina B. Lu, Howard Gamper, Megumi Shigematsu, Ryan J. Taft, Anthony Antonellis, Ya-Ming Hou, Adeline Vanderver

Am J Hum Genet. 2015 Apr 2; 96(4): 675–681. doi: 10.1016/j.ajhg.2015.02.012

PMCID:: PMC4385183

Abstract Article PDF–1.3M

Select item 33595078.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

Z. Zhao, A. Hashiguchi, J. Hu, Y. Sakiyama, Y. Okamoto, S. Tokunaga, L. Zhu, H. Shen, H. Takashima

Neurology. 2012 May 22; 78(21): 1644–1649. doi: 10.1212/WNL.0b013e3182574f8f

PMCID:: PMC3359507

Abstract Article PDF–594K

Select item 28017509.

A Major Determinant for Binding and Aminoacylation of tRNA^Ala in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson

Am J Hum Genet. 2010 Jan 8; 86(1): 77–82. doi: 10.1016/j.ajhg.2009.12.005

PMCID:: PMC2801750

Abstract Article PDF–510K

Select item 841198610.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J van der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan R Lehmann, Donata Orioli, Wim Vermeulen

Hum Mol Genet. 2021 Sep 15; 30(18): 1711–1720. Published online 2021 Apr 28. doi: 10.1093/hmg/ddab123

PMCID:: PMC8411986

Abstract Article PDF–1003K

Select item 802075811.

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS

Litao Sun, Na Wei, Bernhard Kuhle, David Blocquel, Scott Novick, Zaneta Matuszek, Huihao Zhou, Weiwei He, Jingjing Zhang, Thomas Weber, Rita Horvath, Philippe Latour, Tao Pan, Paul Schimmel, Patrick R. Griffin, Xiang-Lei Yang

Proc Natl Acad Sci U S A. 2021 Mar 30; 118(13): e2012898118. Published online 2021 Mar 22. doi: 10.1073/pnas.2012898118

PMCID:: PMC8020758

Abstract Article PDF–1.1M

Select item 559934112.

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R. Andriola, R. Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J. Barry, Jennifer N. Partlow, A. James Barkovich, Jiqiang Ling, Ganeshwaran H. Mochida

Hum Mutat. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Hum Mutat. 2017 Oct; 38(10): 1348–1354. Published online 2017 Jun 23. doi: 10.1002/humu.23250

PMCID:: PMC5599341

Abstract Article PDF–276K

Select item 444210313.

A novel AARS mutation in a family with dominant myeloneuropathy

William W. Motley, Laurie B. Griffin, Inès Mademan, Jonathan Baets, Els De Vriendt, Peter De Jonghe, Anthony Antonellis, Albena Jordanova, Steven S. Scherer

Neurology. 2015 May 19; 84(20): 2040–2047. doi: 10.1212/WNL.0000000000001583

PMCID:: PMC4442103

Abstract Article PDF–839K

Select item 324069314.

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung Lee, Marina Kennerson, Ya-Ming Hou, Garth Nicholson, Anthony Antonellis

Hum Mutat. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Hum Mutat. 2012 Jan; 33(1): 244–253. Published online 2011 Nov 9. doi: 10.1002/humu.21635

Correction in:: volume 35 on page 512

PMCID:: PMC3240693

Abstract Article PDF–527K

Select item 4182115.

Wide cross-species aminoacyl-tRNA synthetase replacement in vivo: yeast cytoplasmic alanine enzyme replaced by human polymyositis serum antigen.

T L Ripmaster, K Shiba, P Schimmel

Proc Natl Acad Sci U S A. 1995 May 23; 92(11): 4932–4936. doi: 10.1073/pnas.92.11.4932

PMCID:: PMC41821

Summary Page Browse PDF–1.9M

Select item 624073016.

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

Marian A J Weterman, Molly Kuo, Susan B Kenter, Sara Gordillo, Dyah W Karjosukarso, Ryuichi Takase, Marieke Bronk, Stephanie Oprescu, Fred van Ruissen, Ron J W Witteveen, Henriette M E Bienfait, Martijn Breuning, Camiel Verhamme, Ya-Ming Hou, Marianne de Visser, Anthony Antonellis, Frank Baas

Hum Mol Genet. 2018 Dec 1; 27(23): 4036–4050. Published online 2018 Aug 14. doi: 10.1093/hmg/ddy290

PMCID:: PMC6240730

Abstract Article PDF–20M

Select item 535693217.

Evolutionary gain of alanine mischarging to non-cognate tRNAs with a G4:U69 base pair

Litao Sun, Ana Cristina Gomes, Weiwei He, Huihao Zhou, Xiaoyun Wang, David W. Pan, Paul Schimmel, Tao Pan, Xiang-Lei Yang

J Am Chem Soc. Author manuscript; available in PMC 2017 Mar 17.

Published in final edited form as: J Am Chem Soc. 2016 Oct 5; 138(39): 12948–12955. Published online 2016 Sep 26. doi: 10.1021/jacs.6b07121

PMCID:: PMC5356932

Abstract Article PDF–825K

Select item 426736418.

Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy

Ye Liu, Jakob S. Satz, My-Nuong Vo, Leslie A. Nangle, Paul Schimmel, Susan L. Ackerman

Proc Natl Acad Sci U S A. 2014 Dec 9; 111(49): 17570–17575. Published online 2014 Nov 24. doi: 10.1073/pnas.1420196111

PMCID:: PMC4267364

Abstract Article PDF–1.7M

Select item 314671819.

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Götz, Henna Tyynismaa, Liliya Euro, Pekka Ellonen, Tuulia Hyötyläinen, Tiina Ojala, Riikka H. Hämäläinen, Johanna Tommiska, Taneli Raivio, Matej Oresic, Riitta Karikoski, Outi Tammela, Kalle O.J. Simola, Anders Paetau, Tiina Tyni, Anu Suomalainen

Am J Hum Genet. 2011 May 13; 88(5): 635–642. doi: 10.1016/j.ajhg.2011.04.006

PMCID:: PMC3146718

Abstract Article PDF–1.0M

Select item 12560420.

Translocation within the acceptor helix of a major tRNA identity determinant

Martha A. Lovato, Joseph W. Chihade, Paul Schimmel

EMBO J. 2001 Sep 3; 20(17): 4846–4853. doi: 10.1093/emboj/20.17.4846

PMCID:: PMC125604

Abstract Article PDF–290K

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