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Select item 107350431.

ATXN2 is a target of N-terminal proteolysis

Monika Chitre, Patrick Emery

PLoS One. 2023; 18(12): e0296085. Published online 2023 Dec 21. doi: 10.1371/journal.pone.0296085

PMCID:: PMC10735043

Abstract Article PDF–2.4M

Select item 98904632.

ATXN2 intermediate expansions in amyotrophic lateral sclerosis

Jonathan D Glass, Ramita Dewan, Jinhui Ding, J Raphael Gibbs, Clifton Dalgard, Pamela J Keagle, Shankaracharya, Alberto García-Redondo, Bryan J Traynor, Ruth Chia, John E Landers

Brain. 2022 Aug; 145(8): 2671–2676. Published online 2022 May 6. doi: 10.1093/brain/awac167

PMCID:: PMC9890463

Abstract Article PDF–339K

Select item 95351333.

ATXN2-Mediated PI3K/AKT Activation Confers Gastric Cancer Chemoresistance and Attenuates CD8⁺ T Cell Cytotoxicity

Qi Wang, Tianyu Cao, Xiaohui Zhang, Juan Hui, Chen Wang, Wenyao Zhang, Pei Wang, Yun Zhou, Shuang Han

J Immunol Res. 2022; 2022: 6863240. Published online 2022 Sep 28. doi: 10.1155/2022/6863240

PMCID:: PMC9535133

Abstract Article PDF–3.7M

Select item 76810094.

Direct evidence that Ataxin-2 is a translational activator mediating cytoplasmic polyadenylation

Hiroto Inagaki, Nao Hosoda, Hitomi Tsuiji, Shin-ichi Hoshino

J Biol Chem. 2020 Nov 20; 295(47): 15810–15825. Published online 2020 Sep 28. doi: 10.1074/jbc.RA120.013835

PMCID:: PMC7681009

Abstract Article PDF–5.1M

Select item 70371895.

Neuroimaging Biomarkers in SCA2 Gene Carriers

Mario Mascalchi, Alessandra Vella

Int J Mol Sci. 2020 Feb; 21(3): 1020. Published online 2020 Feb 4. doi: 10.3390/ijms21031020

PMCID:: PMC7037189

Abstract Article PDF–4.6M

Select item 67903096.

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin

Brain Behav. 2019 Oct; 9(10): e01414. Published online 2019 Sep 16. doi: 10.1002/brb3.1414

PMCID:: PMC6790309

Abstract Article PDF–399K

Select item 59774997.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Clémence Fournier, Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Laura Molina-Porcel, Sabrina Turbant, Daisy Rinaldi, Raquel Sánchez-Valle, Mathieu Barbier, Morwena Latouche, Neuro-CEB Neuropathology Network, Giovanni Stevanin, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Isabelle Le Ber

Acta Neuropathol Commun. 2018; 6: 41. Published online 2018 May 30. doi: 10.1186/s40478-018-0547-8

PMCID:: PMC5977499

Article PDF–900K

Select item 53022158.

ATXN2 trinucleotide repeat length correlates with risk of ALS

William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D. Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A. Ross, Francois Salachas, Katie Sidle, Bradley N. Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Ammar Al-Chalabi

Neurobiol Aging. 2017 Mar; 51: 178.e1–178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010

PMCID:: PMC5302215

Abstract Article

Select item 51932189.

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Leslie D. Parish, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E. Renton, Mike A. Nalls, Bryan J. Traynor, Gabriella Restagno, Adriano Chiò, for the ITALSGEN and SARDINALS consortia

Neurobiol Aging. Author manuscript; available in PMC 2016 Dec 28.

Published in final edited form as: Neurobiol Aging. 2015 Oct; 36(10): 2906.e1–2906.e5. Published online 2015 Jun 25. doi: 10.1016/j.neurobiolaging.2015.06.013

PMCID:: PMC5193218

Abstract Article PDF–356K

Select item 493908910.

Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles: A Meta-analysis

Annalese G. Neuenschwander, Khanh K. Thai, Karla P. Figueroa, Stefan M. Pulst

JAMA Neurol. Author manuscript; available in PMC 2016 Jul 9.

Published in final edited form as: JAMA Neurol. 2014 Dec; 71(12): 1529–1534. doi: 10.1001/jamaneurol.2014.2082

Correction in:: volume 72 on page 128

PMCID:: PMC4939089

Abstract Article PDF–222K

Select item 447272911.

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

Daniel R. Scoles, Mi H. T. Ho, Warunee Dansithong, Lance T. Pflieger, Lance W. Petersen, Khanh K. Thai, Stefan M. Pulst

PLoS One. 2015; 10(6): e0128769. Published online 2015 Jun 18. doi: 10.1371/journal.pone.0128769

PMCID:: PMC4472729

Abstract Article PDF–2.0M

Select item 414175812.

Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies

Ming-Dong Wang, James Gomes, Neil R. Cashman, Julian Little, Daniel Krewski

PLoS One. 2014; 9(8): e105534. Published online 2014 Aug 22. doi: 10.1371/journal.pone.0105534

PMCID:: PMC4141758

Abstract Article PDF–1.1M

Select item 405873613.

12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

Georg Auburger, Suzana Gispert, Suna Lahut, Özgür Ömür, Ewa Damrath, Melanie Heck, Nazlı Başak

World J Diabetes. 2014 Jun 15; 5(3): 316–327. Published online 2014 Jun 15. doi: 10.4239/wjd.v5.i3.316

PMCID:: PMC4058736

Abstract Article PDF–1.1M

Select item 373559114.

De Novo Mutations in Ataxin-2 Gene and ALS Risk

José Miguel Laffita-Mesa, Jorge Michel Rodríguez Pupo, Raciel Moreno Sera, Yaimee Vázquez Mojena, Vivian Kourí, Leonides Laguna-Salvia, Michael Martínez-Godales, José A. Valdevila Figueira, Peter O. Bauer, Roberto Rodríguez-Labrada, Yanetza González Zaldívar, Martin Paucar, Per Svenningsson, Luís Velázquez Pérez

PLoS One. 2013; 8(8): e70560. Published online 2013 Aug 6. doi: 10.1371/journal.pone.0070560

PMCID:: PMC3735591

Abstract Article PDF–1.0M

Select item 317407015.

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

A.R. Paciorkowski, Y. Shafrir, J. Hrivnak, M.C. Patterson, M.B. Tennison, H.B. Clark, C.M. Gomez

Neurology. 2011 Sep 13; 77(11): 1055–1060. doi: 10.1212/WNL.0b013e31822e5627

PMCID:: PMC3174070

Abstract Article PDF–496K

Select item 314082316.

Ataxin-2 repeat-length variation and neurodegeneration

Owen A. Ross, Nicola J. Rutherford, Matt Baker, Alexandra I. Soto-Ortolaza, Minerva M. Carrasquillo, Mariely DeJesus-Hernandez, Jennifer Adamson, Ma Li, Kathryn Volkening, Elizabeth Finger, William W. Seeley, Kimmo J. Hatanpaa, Catherine Lomen-Hoerth, Andrew Kertesz, Eileen H. Bigio, Carol Lippa, Bryan K. Woodruff, David S. Knopman, Charles L. White, III, Jay A. Van Gerpen, James F. Meschia, Ian R. Mackenzie, Kevin Boylan, Bradley F. Boeve, Bruce L. Miller, Michael J. Strong, Ryan J. Uitti, Steven G. Younkin, Neill R. Graff-Radford, Ronald C. Petersen, Zbigniew K. Wszolek, Dennis W. Dickson, Rosa Rademakers

Hum Mol Genet. 2011 Aug 15; 20(16): 3207–3212. Published online 2011 May 24. doi: 10.1093/hmg/ddr227

PMCID:: PMC3140823

Abstract Article PDF–88K

Select item 307166717.

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

Teresa Lee, Yun R. Li, Caroline Ingre, Markus Weber, Torsten Grehl, Ole Gredal, Mamede de Carvalho, Thomas Meyer, Ole-Björn Tysnes, Georg Auburger, Suzana Gispert, Nancy M. Bonini, Peter M. Andersen, Aaron D. Gitler

Hum Mol Genet. 2011 May 1; 20(9): 1697–1700. Published online 2011 Feb 3. doi: 10.1093/hmg/ddr045

PMCID:: PMC3071667

Abstract Article PDF–94K

Select item 306621418.

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

Zhenming Yu, Yongqing Zhu, Alice S. Chen-Plotkin, Dana Clay-Falcone, Leo McCluskey, Lauren Elman, Robert G. Kalb, John Q. Trojanowski, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, Aaron D. Gitler, Nancy M. Bonini

PLoS One. 2011; 6(3): e17951. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0017951

PMCID:: PMC3066214

Abstract Article PDF–269K

Select item 279142119.

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

Karla P. Figueroa, Sadaf Farooqi, Kristopher Harrup, Johnathan Frank, Stephen O'Rahilly, Stefan M. Pulst

PLoS One. 2009; 4(12): e8280. Published online 2009 Dec 14. doi: 10.1371/journal.pone.0008280

PMCID:: PMC2791421

Abstract Article PDF–86K

Select item 267114620.

Motor Decline in Clinically Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers

Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz

PLoS One. 2009; 4(4): e5398. Published online 2009 Apr 29. doi: 10.1371/journal.pone.0005398

PMCID:: PMC2671146

Abstract Article PDF–112K

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