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Select item 89548151.

Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants

Yu Tian, Hua Xie, Shenghai Yang, Shaofang Shangguan, Jianhong Wang, Chunhua Jin, Yu Zhang, Xiaodai Cui, Yanyu Lyu, Xiaoli Chen, Lin Wang

Genes (Basel) 2022 Mar; 13(3): 536. Published online 2022 Mar 18. doi: 10.3390/genes13030536

PMCID:: PMC8954815

Abstract Article PDF–1.4M

Select item 80483812.

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Tarsha Ward, Warren Tai, Sarah Morton, Francis Impens, Petra Van Damme, Delphi Van Haver, Evy Timmerman, Gabriela Venturini, Kehan Zhang, Min Young Jang, Jon A.L. Willcox, Alireza Haghighi, Bruce D. Gelb, Wendy K. Chung, Elizabeth Goldmuntz, George A. Porter, Jr, Richard P. Lifton, Martina Brueckner, H. Joseph Yost, Benoit G. Bruneau, Joshua Gorham, Yuri Kim, Alexandre Pereira, Jason Homsy, Craig C. Benson, Steven R. DePalma, Sylvia Varland, Christopher S. Chen, Thomas Arnesen, Kris Gevaert, Christine Seidman, J.G. Seidman

Circ Res. 2021 Apr 16; 128(8): 1156–1169. Published online 2021 Feb 9. doi: 10.1161/CIRCRESAHA.120.316966

PMCID:: PMC8048381

Abstract Article PDF–3.0M

Select item 59866983.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban Akdemir, Andrea M. Lewis, Vernon R. Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J. Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael A. Bernier, Sébastien Küry, Mathilde Nizon, Mark A. Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gecz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

Am J Hum Genet. 2018 May 3; 102(5): 985–994. Published online 2018 Apr 12. doi: 10.1016/j.ajhg.2018.03.004

PMCID:: PMC5986698

Abstract Article PDF–1.3M

Select item 103259524.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J. Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel

Eur J Hum Genet. 2023 Jul; 31(7): 824–833. Published online 2023 May 2. doi: 10.1038/s41431-023-01368-y

PMCID:: PMC10325952

Abstract Article PDF–1.5M

Select item 80070795.

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy

Alyssa Ritter, Justin H. Berger, Matthew Deardorff, Kosuke Izumi, Kimberly Y. Lin, Livija Medne, Rebecca C. Ahrens-Nicklas

Am J Med Genet A. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Am J Med Genet A. 2021 Jan; 185(1): 228–233. Published online 2020 Oct 26. doi: 10.1002/ajmg.a.61928

PMCID:: PMC8007079

Abstract Article PDF–458K

Select item 57654766.

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Jin J. Zhao, Jonatan Halvardson, Cecilia S. Zander, Ammar Zaghlool, Patrik Georgii‐Hemming, Else Månsson, Göran Brandberg, Helena E. Sävmarker, Carina Frykholm, Ekaterina Kuchinskaya, Ann‐Charlotte Thuresson, Lars Feuk

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177(1): 10–20. Published online 2017 Oct 9. doi: 10.1002/ajmg.b.32574

PMCID:: PMC5765476

Abstract Article PDF–525K

Select item 54672107.

Structural basis of HypK regulating N-terminal acetylation by the NatA complex

Felix Alexander Weyer, Andrea Gumiero, Karine Lapouge, Gert Bange, Jürgen Kopp, Irmgard Sinning

Nat Commun. 2017; 8: 15726. Published online 2017 Jun 6. doi: 10.1038/ncomms15726

PMCID:: PMC5467210

Abstract Article PDF–1.5M

Select item 70107998.

Molecular basis for N-terminal acetylation by human NatE and its modulation by HYPK

Sunbin Deng, Nina McTiernan, Xuepeng Wei, Thomas Arnesen, Ronen Marmorstein

Nat Commun. 2020; 11: 818. Published online 2020 Feb 10. doi: 10.1038/s41467-020-14584-7

PMCID:: PMC7010799

Abstract Article PDF–4.0M

Select item 43550269.

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Line M. Myklebust, Petra Van Damme, Svein I. Støve, Max J. Dörfel, Angèle Abboud, Thomas V. Kalvik, Cedric Grauffel, Veronique Jonckheere, Yiyang Wu, Jeffrey Swensen, Hanna Kaasa, Glen Liszczak, Ronen Marmorstein, Nathalie Reuter, Gholson J. Lyon, Kris Gevaert, Thomas Arnesen

Hum Mol Genet. 2015 Apr 1; 24(7): 1956–1976. Published online 2014 Dec 8. doi: 10.1093/hmg/ddu611

PMCID:: PMC4355026

Abstract Article PDF–1.4M

Select item 113486110.

Identification and characterization of the human ARD1–NATH protein acetyltransferase complex

Thomas Arnesen, Dave Anderson, Christian Baldersheim, Michel Lanotte, Jan E. Varhaug, Johan R. Lillehaug

Biochem J. 2005 Mar 15; 386(Pt 3): 433–443. Prepublished online 2004 Oct 21. Published online 2005 Mar 8. doi: 10.1042/BJ20041071

PMCID:: PMC1134861

Abstract Article PDF–821K

Select item 661066011.

Structure and mechanism of acetylation by the N-terminal dual enzyme NatA/Naa50 complex

Sunbin Deng, Robert S. Magin, Xuepeng Wei, Buyan Pan, E. James Petersson, Ronen Marmorstein

Structure. Author manuscript; available in PMC 2020 Jul 2.

Published in final edited form as: Structure. 2019 Jul 2; 27(7): 1057–1070.e4. Published online 2019 May 30. doi: 10.1016/j.str.2019.04.014

PMCID:: PMC6610660

Abstract Article PDF–2.9M

Select item 603145412.

Structure of human NatA and its regulation by the Huntingtin Interacting Protein HYPK

Leah Gottlieb, Ronen Marmorstein

Structure. Author manuscript; available in PMC 2019 Jul 3.

Published in final edited form as: Structure. 2018 Jul 3; 26(7): 925–935.e8. Published online 2018 May 10. doi: 10.1016/j.str.2018.04.003

PMCID:: PMC6031454

Abstract Article PDF–1.3M

Select item 284946913.

The Chaperone-Like Protein HYPK Acts Together with NatA in Cotranslational N-Terminal Acetylation and Prevention of Huntingtin Aggregation

Thomas Arnesen, Kristian K. Starheim, Petra Van Damme, Rune Evjenth, Huyen Dinh, Matthew J. Betts, Anita Ryningen, Joël Vandekerckhove, Kris Gevaert, Dave Anderson

Mol Cell Biol. 2010 Apr; 30(8): 1898–1909. Published online 2010 Feb 12. doi: 10.1128/MCB.01199-09

PMCID:: PMC2849469

Abstract Article PDF–2.7M

Select item 268885914.

Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans

Thomas Arnesen, Petra Van Damme, Bogdan Polevoda, Kenny Helsens, Rune Evjenth, Niklaas Colaert, Jan Erik Varhaug, Joël Vandekerckhove, Johan R. Lillehaug, Fred Sherman, Kris Gevaert

Proc Natl Acad Sci U S A. 2009 May 19; 106(20): 8157–8162. Published online 2009 May 6. doi: 10.1073/pnas.0901931106

PMCID:: PMC2688859

Abstract Article PDF–723K

Select item 237540315.

Serological identification and expression analysis of gastric cancer-associated genes

A Linē, A Stengrēvics, Z Slucka, G Li, E Jankevics, R C Rees

Br J Cancer. 2002 Jun 5; 86(11): 1824–1830. doi: 10.1038/sj.bjc.6600321

PMCID:: PMC2375403

Abstract Article PDF–134K

Select item 147558616.

Characterization of hARD2, a processed hARD1 gene duplicate, encoding a human protein N-α-acetyltransferase

Thomas Arnesen, Matthew J Betts, Frédéric Pendino, David A Liberles, Dave Anderson, Jaime Caro, Xianguo Kong, Jan E Varhaug, Johan R Lillehaug

BMC Biochem. 2006; 7: 13. Published online 2006 Apr 25. doi: 10.1186/1471-2091-7-13

PMCID:: PMC1475586

Abstract Article PDF–1.0M

Select item 269547817.

A novel human NatA N^α-terminal acetyltransferase complex: hNaa16p-hNaa10p (hNat2-hArd1)

Thomas Arnesen, Darina Gromyko, Diane Kagabo, Matthew J Betts, Kristian K Starheim, Jan Erik Varhaug, Dave Anderson, Johan R Lillehaug

BMC Biochem. 2009; 10: 15. Published online 2009 May 29. doi: 10.1186/1471-2091-10-15

PMCID:: PMC2695478

Abstract Article PDF–1.2M

Select item 272209518.

A synopsis of eukaryotic N^α-terminal acetyltransferases: nomenclature, subunits and substrates

Bogdan Polevoda, Thomas Arnesen, Fred Sherman

BMC Proc. 2009; 3(Suppl 6): S2. Published online 2009 Aug 4. doi: 10.1186/1753-6561-3-S6-S2

PMCID:: PMC2722095

Abstract Article PDF–211K

Select item 550170119.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Ryan KC Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A Buchanan, Susan Walker, Christian R Marshall, Mohammed Uddin, Mehdi Zarrei, Eric Deneault, Lia D’Abate, Ada JS Chan, Stephanie Koyanagi, Tara Paton, Sergio L Pereira, Ny Hoang, Worrawat Engchuan, Edward J Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R MacDonald, Thomas Nalpathamkalam, Wilson WL Sung, Fiona J Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury-Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy Doyle-Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion-Lemieux, Isabel M Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H Cook, Stephen Dager, Annette Estes, Louise Gallagher, Beth A Malow, Jeremy R Parr, Sarah J Spence, Jacob Vorstman, Brendan J Frey, James T Robinson, Lisa J Strug, Bridget A Fernandez, Mayada Elsabbagh, Melissa T Carter, Joachim Hallmayer, Bartha M Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H Ring, David Glazer, Mathew T Pletcher, Stephen W Scherer

Nat Neurosci. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Nat Neurosci. 2017 Apr; 20(4): 602–611. Published online 2017 Mar 6. doi: 10.1038/nn.4524

PMCID:: PMC5501701

Abstract Article PDF–1.3M

Select item 353690820.

Protein N-terminal Acetyltransferases Act as N-terminal Propionyltransferases In Vitro and In Vivo

Håvard Foyn, Petra Van Damme, Svein I. Støve, Nina Glomnes, Rune Evjenth, Kris Gevaert, Thomas Arnesen

Mol Cell Proteomics. 2013 Jan; 12(1): 42–54. Published online 2012 Oct 4. doi: 10.1074/mcp.M112.019299

PMCID:: PMC3536908

Abstract Article PDF–1.1M

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