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Select item 111075851.

Evolutionary gain of highly divergent tRNA specificities by two isoforms of human histidyl-tRNA synthetase

Yi-Hsueh Lee, Chia-Pei Chang, Yu-Ju Cheng, Yi-Yi Kuo, Yeong-Shin Lin, Chien-Chia Wang

Cell Mol Life Sci. 2017 Jul; 74(14): 2663–2677. Published online 2017 Mar 20. doi: 10.1007/s00018-017-2491-3

PMCID:: PMC11107585

Abstract Article PDF–1.6M

Select item 96775092.

The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity

Jamie A. Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M. Siu, C. Anthony Rupar, Borries Demeler, Christopher S. Francklyn, Susan M. Robey-Bond

Biochemistry. Author manuscript; available in PMC 2022 Nov 21.

Published in final edited form as: Biochemistry. 2017 Jul 18; 56(28): 3619–3631. Published online 2017 Jul 7. doi: 10.1021/acs.biochem.7b00114

PMCID:: PMC9677509

Abstract Article PDF–1.9M

Select item 81669583.

Serum-circulating His-tRNA synthetase inhibits organ-targeted immune responses

Ryan A. Adams, Cátia Fernandes-Cerqueira, Antonella Notarnicola, Elisabeth Mertsching, Zhiwen Xu, Wing-Sze Lo, Kathleen Ogilvie, Kyle P. Chiang, Jeanette Ampudia, Sanna Rosengren, Andrea Cubitt, David J. King, John D. Mendlein, Xiang-Lei Yang, Leslie A. Nangle, Ingrid E. Lundberg, Per-Johan Jakobsson, Paul Schimmel

Cell Mol Immunol. 2021 Jun; 18(6): 1463–1475. Published online 2019 Dec 4. doi: 10.1038/s41423-019-0331-0

PMCID:: PMC8166958

Abstract Article PDF–4.8M

Select item 73239104.

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

Daniele Galatolo, Molly E. Kuo, Patrick Mullen, Rebecca Meyer-Schuman, Stefano Doccini, Roberta Battini, Maria Lieto, Alessandra Tessa, Alessandro Filla, Christopher Francklyn, Anthony Antonellis, Filippo M. Santorelli

Hum Mutat. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Hum Mutat. 2020 Jul; 41(7): 1232–1237. Published online 2020 Apr 29. doi: 10.1002/humu.24024

PMCID:: PMC7323910

Abstract Article PDF–495K

Select item 48409525.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Dana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, Andreas Ferbert, Jana Haberlova, Radim Mazanec, Petra Lassuthova, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauss, Andreas R. Janecke, Petra Zavadakova, Roman Chrast, Carlo Rivolta, Stephan Zuchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets

Brain. 2015 Aug; 138(8): 2161–2172. Published online 2015 Jun 13. doi: 10.1093/brain/awv158

PMCID:: PMC4840952

Abstract Article PDF–500K

Select item 40940376.

Secreted Histidyl-tRNA Synthetase Splice Variants Elaborate Major Epitopes for Autoantibodies in Inflammatory Myositis

Jie J. Zhou, Feng Wang, Zhiwen Xu, Wing-Sze Lo, Ching-Fun Lau, Kyle P. Chiang, Leslie A. Nangle, Melissa A. Ashlock, John D. Mendlein, Xiang-Lei Yang, Mingjie Zhang, Paul Schimmel

J Biol Chem. 2014 Jul 11; 289(28): 19269–19275. Published online 2014 Jun 4. doi: 10.1074/jbc.C114.571026

PMCID:: PMC4094037

Abstract Article PDF–891K

Select item 40310267.

Patients with non-Jo-1 anti-tRNA-synthetase autoantibodies have worse survival than Jo-1 positive patients

Rohit Aggarwal, Elaine Cassidy, Noreen Fertig, Diane Carol Koontz, Mary Lucas, Dana P Ascherman, Chester V Oddis

Ann Rheum Dis. Author manuscript; available in PMC 2014 May 22.

Published in final edited form as: Ann Rheum Dis. 2014 Jan; 73(1): 227–232. Published online 2013 Feb 19. doi: 10.1136/annrheumdis-2012-201800

PMCID:: PMC4031026

Abstract Article PDF–834K

Select item 39789978.

Functional outcome and prognostic factors in anti-Jo1 patients with antisynthetase syndrome

Isabelle Marie, Pierre-Yves Hatron, Patrick Cherin, Eric Hachulla, Elisabeth Diot, Olivier Vittecoq, Jean-François Menard, Fabienne Jouen, Stéphane Dominique

Arthritis Res Ther. 2013; 15(5): R149. Published online 2013 Oct 8. doi: 10.1186/ar4332

PMCID:: PMC3978997

Abstract Article PDF–201K

Select item 16846929.

Deletion mapping of human chromosome 5 using chromosome-specific DNA probes.

L R Carlock, D Skarecky, S L Dana, J J Wasmuth

Am J Hum Genet. 1985 Sep; 37(5): 839–852.

PMCID:: PMC1684692

Summary Page Browse PDF–1.8M

Select item 34073410.

Isolation, structure and expression of mammalian genes for histidyl-tRNA synthetase.

F W Tsui, L Siminovitch

Nucleic Acids Res. 1987 Apr 24; 15(8): 3349–3367. doi: 10.1093/nar/15.8.3349

PMCID:: PMC340734

Summary Page Browse PDF–1.5M

Select item 425037111.

Comparison of histidine recognition in human and trypanosomatid histidyl-tRNA synthetases

Cho Yeow Koh, Allan B Wetzel, Will J. de van der Schueren, Wim G. J. Hol

Biochimie. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Biochimie. 2014 Nov; 0: 111–120. Published online 2014 Aug 20. doi: 10.1016/j.biochi.2014.08.005

PMCID:: PMC4250371

Abstract Article PDF–1.8M

Select item 353552412.

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Aimee Vester, Gisselle Velez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth Nicholson, Asim Beg, Anthony Antonellis

Hum Mutat. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 191–199. Published online 2012 Oct 11. doi: 10.1002/humu.22210

PMCID:: PMC3535524

Abstract Article PDF–2.1M

Select item 348569413.

Internally deleted human tRNA synthetase suggests evolutionary pressure for repurposing

Zhiwen Xu, Zhiyi Wei, Jie J. Zhou, Fei Ye, Wing-Sze Lo, Feng Wang, Ching-Fun Lau, Jingjing Wu, Leslie A. Nangle, Kyle P. Chiang, Xiang-Lei Yang, Mingjie Zhang, Paul Schimmel

Structure. Author manuscript; available in PMC 2013 Sep 5.

Published in final edited form as: Structure. 2012 Sep 5; 20(9): 1470–1477. doi: 10.1016/j.str.2012.08.001

PMCID:: PMC3485694

Abstract Article PDF–2.8M

Select item 31209314.

Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases.

N Raben, F Borriello, J Amin, R Horwitz, D Fraser, P Plotz

Nucleic Acids Res. 1992 Mar 11; 20(5): 1075–1081. doi: 10.1093/nar/20.5.1075

PMCID:: PMC312093

Summary Page Browse PDF–1.5M

Select item 598303015.

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Jamie A. Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, Shawna Feely, Inès Mademan, Stephanie N. Oprescu, Laurie B. Griffin, M. Antonia Alberti, Carlos Casasnovas, Sharon Aharoni, Lina Basel-Vanagaite, Stephan Züchner, Peter De Jonghe, Jonathan Baets, Michael E. Shy, Carmen Espinós, Borries Demeler, Anthony Antonellis, Christopher Francklyn

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

Published in final edited form as: Hum Mutat. 2018 Mar; 39(3): 415–432. Published online 2017 Dec 26. doi: 10.1002/humu.23380

PMCID:: PMC5983030

Abstract Article PDF–2.4M

Select item 16463716.

TSG101 interaction with HRS mediates endosomal trafficking and receptor down-regulation

Quan Lu, Lila Weiqiao Hope, Michael Brasch, Christoph Reinhard, Stanley N. Cohen

Proc Natl Acad Sci U S A. 2003 Jun 24; 100(13): 7626–7631. Published online 2003 Jun 11. doi: 10.1073/pnas.0932599100

PMCID:: PMC164637

Abstract Article PDF–4.7M

Select item 308102317.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Sarah B. Pierce, Karen M. Chisholm, Eric D. Lynch, Ming K. Lee, Tom Walsh, John M. Opitz, Weiqing Li, Rachel E. Klevit, Mary-Claire King

Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16): 6543–6548. Published online 2011 Apr 4. doi: 10.1073/pnas.1103471108

PMCID:: PMC3081023

Abstract Article PDF–811K

Select item 326015318.

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss

PLoS One. 2012; 7(1): e28936. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0028936

PMCID:: PMC3260153

Abstract Article PDF–6.2M

Select item 678687319.

A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection

Amy T. Y. Yeung, Yoon Ha Choi, Amy H. Y. Lee, Christine Hale, Hannes Ponstingl, Derek Pickard, David Goulding, Mark Thomas, Erin Gill, Jong Kyoung Kim, Allan Bradley, Robert E. W. Hancock, Gordon Dougan

mBio. 2019 Sep-Oct; 10(5): e02169-19. Published online 2019 Oct 8. doi: 10.1128/mBio.02169-19

PMCID:: PMC6786873

Abstract Article PDF–2.2M

Select item 729913020.

IKK-mediated Regulation of the COP9 Signalosome via Phosphorylation of CSN5

Jingzi Zhang, Ruoyu Zhao, Christine L. N. Bryant, Kenneth Wu, Zhihong Liu, Yibing Ding, Yue Zhao, Bin Xue, Zhen-Qiang Pan, Chaojun Li, Lan Huang, Lei Fang

J Proteome Res. Author manuscript; available in PMC 2020 Jun 17.

Published in final edited form as: J Proteome Res. 2020 Mar 6; 19(3): 1119–1130. Published online 2020 Feb 3. doi: 10.1021/acs.jproteome.9b00626

PMCID:: PMC7299130

Abstract Article PDF–2.2M

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