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Select item 100856991.

Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor

Zdenka Hasanova, Veronika Klapstova, Odil Porrua, Richard Stefl, Marek Sebesta

Nucleic Acids Res. 2023 Apr 11; 51(6): 2818–2837. Published online 2023 Mar 2. doi: 10.1093/nar/gkad092

PMCID:: PMC10085699

Abstract Article PDF–4.2M

Select item 95872912.

Transcriptional targets of senataxin and E2 promoter binding factors are associated with neuro-degenerative pathways during increased autophagic flux

Aaron E. Casey, Wenjun Liu, Leanne K. Hein, Timothy J. Sargeant, Stephen M. Pederson, Ville-Petteri Mäkinen

Sci Rep. 2022; 12: 17665. Published online 2022 Oct 21. doi: 10.1038/s41598-022-21617-2

PMCID:: PMC9587291

Abstract Article PDF–1.3M

Select item 95362983.

Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4

Annapoorna Kannan, Juliana Cuartas, Pratik Gangwani, Dana Branzei, Laxman Gangwani

Brain. 2022 Sep; 145(9): 3072–3094. Published online 2022 Jan 19. doi: 10.1093/brain/awab464

PMCID:: PMC9536298

Abstract Article PDF–3.1M

Select item 87955034.

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2

Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M. Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F. Lavin, Amnon Koren, Aengus Stewart, Stephen C. West

Proc Natl Acad Sci U S A. 2022 Jan 25; 119(4): e2114314119. Published online 2022 Jan 18. doi: 10.1073/pnas.2114314119

PMCID:: PMC8795503

Abstract Article PDF–1.7M

Select item 82118195.

Hypoxia-induced SETX links replication stress with the unfolded protein response

Shaliny Ramachandran, Tiffany S. Ma, Jon Griffin, Natalie Ng, Iosifina P. Foskolou, Ming-Shih Hwang, Pedro Victori, Wei-Chen Cheng, Francesca M. Buffa, Katarzyna B. Leszczynska, Sherif F. El-Khamisy, Natalia Gromak, Ester M. Hammond

Nat Commun. 2021; 12: 3686. Published online 2021 Jun 17. doi: 10.1038/s41467-021-24066-z

PMCID:: PMC8211819

Abstract Article PDF–3.4M

Select item 78182516.

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

Christopher Grunseich, Aneesh Patankar, Joshua Amaya, Jason A. Watts, Dongjun Li, Prisila Ramirez, Alice B. Schindler, Kenneth H. Fischbeck, Vivian G. Cheung

Ann Neurol. 2020 Apr; 87(4): 547–555. Published online 2020 Jan 28. doi: 10.1002/ana.25681

PMCID:: PMC7818251

Abstract Article PDF–5.8M

Select item 75280237.

Senataxin mutations and amyotrophic lateral sclerosis

MICHIO HIRANO, CATARINA M. QUINZII, HIROSHI MITSUMOTO, ARTHUR P. HAYS, J. KIRK ROBERTS, PATRICIA RICHARD, LEWIS P. ROWLAND

Amyotroph Lateral Scler. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Amyotroph Lateral Scler. 2011 May; 12(3): 223–227. Published online 2010 Dec 29. doi: 10.3109/17482968.2010.545952

PMCID:: PMC7528023

Abstract Article PDF–412K

Select item 61606578.

A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis

Limin Ma, Yingying Shi, Zhongcan Chen, Shujian Li, Jiewen Zhang

Brain Behav. 2018 Sep; 8(9): e01066. Published online 2018 Jul 27. doi: 10.1002/brb3.1066

PMCID:: PMC6160657

Abstract Article PDF–321K

Select item 58032609.

Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations

Sarah Cohen, Nadine Puget, Yea-Lih Lin, Thomas Clouaire, Marion Aguirrebengoa, Vincent Rocher, Philippe Pasero, Yvan Canitrot, Gaëlle Legube

Nat Commun. 2018; 9: 533. Published online 2018 Feb 7. doi: 10.1038/s41467-018-02894-w

PMCID:: PMC5803260

Abstract Article PDF–2.2M

Select item 502903010.

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

Cong Lu, Yi-Cen Zheng, Yi Dong, Hong-Fu Li

BMC Neurol. 2016; 16: 179. Published online 2016 Sep 20. doi: 10.1186/s12883-016-0696-y

PMCID:: PMC5029030

Abstract Article PDF–770K

Select item 458160511.

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2

Olivier J. Becherel, Jane Sun, Abrey J. Yeo, Sam Nayler, Brent L. Fogel, Fuying Gao, Giovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, Ernst Wolvetang, Martin F. Lavin

Hum Mol Genet. 2015 Oct 15; 24(20): 5759–5774. Published online 2015 Jul 30. doi: 10.1093/hmg/ddv296

PMCID:: PMC4581605

Abstract Article PDF–1.5M

Select item 375147812.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson, Marta Panzeri, Giovanna Zorzi, Carlo Antozzi, Isabella Moroni, Cinzia Gellera, Alfredo Brusco, Caterina Mariotti

Orphanet J Rare Dis. 2013; 8: 123. Published online 2013 Aug 14. doi: 10.1186/1750-1172-8-123

PMCID:: PMC3751478

Abstract Article PDF–1.3M

Select item 274902313.

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

Veronica Bernard, Martina Minnerop, Katrin Bürk, Friedmar Kreuz, Gabriele Gillessen-Kaesbach, Christine Zühlke

BMC Med Genet. 2009; 10: 87. Published online 2009 Sep 11. doi: 10.1186/1471-2350-10-87

PMCID:: PMC2749023

Abstract Article PDF–481K

Select item 233002914.

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulou

BMC Med Genet. 2008; 9: 28. Published online 2008 Apr 14. doi: 10.1186/1471-2350-9-28

PMCID:: PMC2330029

Abstract Article PDF–361K

Select item 137696315.

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

P F Chance, B A Rabin, S G Ryan, Y Ding, M Scavina, B Crain, J W Griffin, D R Cornblath

Am J Hum Genet. 1998 Mar; 62(3): 633–640. doi: 10.1086/301769

PMCID:: PMC1376963

Summary PDF–295K

Select item 128857416.

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

Andrea H. Németh, Elena Bochukova, Eimear Dunne, Susan M. Huson, John Elston, Mohammed A. Hannan, Matthew Jackson, Cyril J. Chapman, A. Malcolm R. Taylor

Am J Hum Genet. 2000 Nov; 67(5): 1320–1326. Published online 2000 Oct 5. doi: 10.1016/s0002-9297(07)62962-0

PMCID:: PMC1288574

Abstract Article PDF–229K

Select item 977232617.

FANCD2 promotes mitotic rescue from transcription-mediated replication stress in SETX-deficient cancer cells

Maha Said, Viviana Barra, Elisa Balzano, Ibtissam Talhaoui, Franca Pelliccia, Simona Giunta, Valeria Naim

Commun Biol. 2022; 5: 1395. Published online 2022 Dec 21. doi: 10.1038/s42003-022-04360-2

PMCID:: PMC9772326

Abstract Article PDF–2.4M

Select item 891588518.

ΔNp63-Senataxin circuit controls keratinocyte differentiation by promoting the transcriptional termination of epidermal genes

Veronica Gatti, Claudia Fierro, Mirco Compagnone, Veronica La Banca, Alessandro Mauriello, Manuela Montanaro, Stefano Scalera, Francesca De Nicola, Eleonora Candi, Francesco Ricci, Luca Fania, Gerry Melino, Angelo Peschiaroli

Proc Natl Acad Sci U S A. 2022 Mar 8; 119(10): e2104718119. Published online 2022 Mar 2. doi: 10.1073/pnas.2104718119

PMCID:: PMC8915885

Abstract Article PDF–2.0M

Select item 581587819.

Senataxin Mutation Reveals How R-loops Promote Transcription by Blocking DNA Methylation at Gene Promoters

Christopher Grunseich, Isabel X. Wang, Jason A. Watts, Joshua T. Burdick, Robert D. Guber, Zhengwei Zhu, Alan Bruzel, Tyler Lanman, Kelian Chen, Alice B. Schindler, Nancy Edwards, Abhik Ray-Chaudhury, Jianhua Yao, Tanya Lehky, Grzegorz Piszczek, Barbara Crain, Kenneth H. Fischbeck, Vivian G. Cheung

Mol Cell. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Mol Cell. 2018 Feb 1; 69(3): 426–437.e7. Published online 2018 Jan 27. doi: 10.1016/j.molcel.2017.12.030

PMCID:: PMC5815878

Abstract Article PDF–1.9M

Select item 440685120.

The helicase senataxin suppresses the antiviral transcriptional response and controls viral biogenesis

Matthew S. Miller, Alexander Rialdi, Jessica Sook Yuin Ho, Micah Tilove, Luis Martinez-Gil, Natasha P. Moshkina, Zuleyma Peralta, Justine Noel, Camilla Melegari, Ana Maestre, Panagiotis Mitsopoulos, Joaquín Madrenas, Sven Heinz, Chris Benner, John A. T. Young, Alicia R. Feagins, Christopher Basler, Ana Fernandez-Sesma, Olivier J. Becherel, Martin F. Lavin, Harm van Bakel, Ivan Marazzi

Nat Immunol. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Nat Immunol. 2015 May; 16(5): 485–494. Published online 2015 Mar 30. doi: 10.1038/ni.3132

PMCID:: PMC4406851

Abstract Article PDF–1.1M

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