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Select item 64076051.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O. Hashem, Fajr A. Aleisa, Heba M. Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P. Drew, Mark J. Cowley, Marcel Dinger, Jill A. Rosenfeld, Rui Xiao, Megan T. Cho, Suliat F. Yakubu, Lindsay B. Henderson, Maria J. Guillen Sacoto, Amber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V. Andrews, Marilyn C. Jones, Kristin Lindstrom, Ruth E. Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P. Kirk, Ann Bye, Jasmeen Merzaban, Łukas Jaremko, Mariusz Jaremko, Rani K. Sachdev, Fowzan S. Alkuraya, Stefan T. Arold

Am J Hum Genet. 2019 Mar 7; 104(3): 542–552. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.013

Correction in:: Am J Hum Genet. 2019 Apr 4; 104(4): 778.

PMCID:: PMC6407605

Abstract Article PDF–1.4M

Select item 41081792.

Allele-Selective Inhibition of Mutant Atrophin-1 Expression by Duplex and Single-Stranded RNAs

Jiaxin Hu, Jing Liu, K. Jayaprakash Narayanannair, Jeremy G. Lackey, Satya Kuchimanchi, Kallanthottathil G. Rajeev, Muthiah Manoharan, Eric E. Swayze, Walt F. Lima, Thazha P. Prakash, Qin Xiang, Carlos Martinez, David R. Corey

Biochemistry. 2014 Jul 22; 53(28): 4510–4518. Published online 2014 Jul 1. doi: 10.1021/bi500610r

PMCID:: PMC4108179

Abstract Article PDF–4.2M

Select item 26388293.

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice

Toshiya Sato, Masami Miura, Mitsunori Yamada, Takayuki Yoshida, Jonathan D. Wood, Ikuru Yazawa, Masao Masuda, Takeo Suzuki, Ryong-Moon Shin, Hau-Jie Yau, Fu-Chin Liu, Takayoshi Shimohata, Osamu Onodera, Christopher A. Ross, Motoya Katsuki, Hitoshi Takahashi, Masanobu Kano, Toshihiko Aosaki, Shoji Tsuji

Hum Mol Genet. 2009 Feb 15; 18(4): 723–736. Published online 2008 Nov 27. doi: 10.1093/hmg/ddn403

PMCID:: PMC2638829

Abstract Article PDF–590K

Select item 18013834.

Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.

O Onodera, M Oyake, H Takano, T Ikeuchi, S Igarashi, S Tsuji

Am J Hum Genet. 1995 Nov; 57(5): 1050–1060.

PMCID:: PMC1801383

Summary Page Browse PDF–2.3M

Select item 33669985.

The Oncoprotein BCL11A Binds to Orphan Nuclear Receptor TLX and Potentiates its Transrepressive Function

Sara B. Estruch, Víctor Buzón, Laia R. Carbó, Lenka Schorova, Jens Lüders, Eva Estébanez-Perpiñá

PLoS One. 2012; 7(6): e37963. Published online 2012 Jun 4. doi: 10.1371/journal.pone.0037963

PMCID:: PMC3366998

Abstract Article PDF–1.0M

Select item 21752516.

Atrophin-1, the Dentato-Rubral and Pallido-Luysian Atrophy Gene Product, Interacts with Eto/Mtg8 in the Nuclear Matrix and Represses Transcription

Jonathan D. Wood, Frederick C. Nucifora, Jr., Kui Duan, Chuanyi Zhang, Jianxiang Wang, Yujin Kim, Gabriele Schilling, Nicoletta Sacchi, Johnson M. Liu, Christopher A. Ross

J Cell Biol. 2000 Sep 4; 150(5): 939–948. doi: 10.1083/jcb.150.5.939

PMCID:: PMC2175251

Abstract Article PDF–321K

Select item 95479227.

CircRNF144B/miR-342-3p/FBXL11 axis reduced autophagy and promoted the progression of ovarian cancer by increasing the ubiquitination of Beclin-1

Wenting Song, Zhirui Zeng, Yilei Zhang, Haili Li, Huimin Cheng, Jun Wang, Fengrui Wu

Cell Death Dis. 2022 Oct; 13(10): 857. Published online 2022 Oct 8. doi: 10.1038/s41419-022-05286-7

PMCID:: PMC9547922

Abstract Article PDF–9.9M

Select item 42848018.

Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance

Feng Zhang, Dan Xu, Ling Yuan, Yiming Sun, Zhiheng Xu

Nat Commun. 2014 Dec 18; 5: 5815. Published online 2014 Dec 18. doi: 10.1038/ncomms6815

PMCID:: PMC4284801

Abstract Article PDF–2.6M

Select item 54203149.

Polyglutamine tracts regulate beclin 1-dependent autophagy

Avraham Ashkenazi, Carla F. Bento, Thomas Ricketts, Mariella Vicinanza, Farah Siddiqi, Mariana Pavel, Ferdinando Squitieri, Maarten C. Hardenberg, Sara Imarisio, Fiona M. Menzies, David C. Rubinsztein

Nature. Author manuscript; available in PMC 2017 Oct 26.

Published in final edited form as: Nature. 2017 May 4; 545(7652): 108–111. Published online 2017 Apr 26. doi: 10.1038/nature22078

PMCID:: PMC5420314

Abstract Article PDF–5.3M

Select item 290927210.

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

Maria do Carmo Costa, Andreia Teixeira-Castro, Marco Constante, Marina Magalhães, Paula Magalhães, Joana Cerqueira, José Vale, Vitorina Passão, Célia Barbosa, Conceição Robalo, Paula Coutinho, José Barros, Manuela M. Santos, Jorge Sequeiros, Patrícia Maciel

J Hum Genet. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: J Hum Genet. 2006; 51(8): 645–651. Published online 2006 Jul 21. doi: 10.1007/s10038-006-0001-9

PMCID:: PMC2909272

Abstract Article PDF–338K

Select item 265228811.

Atrophin Proteins Interact with the Fat1 Cadherin and Regulate Migration and Orientation in Vascular Smooth Muscle Cells

Rong Hou, Nicholas E. S. Sibinga

J Biol Chem. 2009 Mar 13; 284(11): 6955–6965. doi: 10.1074/jbc.M809333200

PMCID:: PMC2652288

Abstract Article PDF–1.2M

Select item 186804312.

Drosophila Brakeless Interacts with Atrophin and Is Required for Tailless-Mediated Transcriptional Repression in Early Embryos

Achim Haecker, Dai Qi, Tobias Lilja, Bernard Moussian, Luiz Paulo Andrioli, Stefan Luschnig, Mattias Mannervik

PLoS Biol. 2007 Jun; 5(6): e145. Published online 2007 May 15. doi: 10.1371/journal.pbio.0050145

PMCID:: PMC1868043

Abstract Article PDF–622K

Select item 329847313.

Effects of partner proteins on BCA2 RING ligase activity

Stephanie Bacopulos, Yutaka Amemiya, Wenyi Yang, Judit Zubovits, Angelika Burger, Martin Yaffe, Arun K Seth

BMC Cancer. 2012; 12: 63. Published online 2012 Feb 8. doi: 10.1186/1471-2407-12-63

PMCID:: PMC3298473

Abstract Article PDF–7.3M

Select item 141080514.

Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors

Lei Wang, Harini Rajan, Jeffrey L. Pitman, Michael McKeown, Chih-Cheng Tsai

Genes Dev. 2006 Mar 1; 20(5): 525–530. doi: 10.1101/gad.1393506

PMCID:: PMC1410805

Abstract Article PDF–477K

Select item 452239015.

The Repeat Expansion Diseases: the dark side of DNA repair?

Xiao-Nan Zhao, Karen Usdin

DNA Repair (Amst) Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: DNA Repair (Amst). 2015 Aug; 32: 96–105. Published online 2015 Apr 30. doi: 10.1016/j.dnarep.2015.04.019

PMCID:: PMC4522390

Abstract Article PDF–560K

Select item 432309716.

AUTS2 confers gene activation to Polycomb group proteins in the CNS

Zhonghua Gao, Pedro Lee, James M. Stafford, Melanie von Schimmelmann, Anne Schaefer, Danny Reinberg

Nature. Author manuscript; available in PMC 2015 Jun 18.

Published in final edited form as: Nature. 2014 Dec 18; 516(7531): 349–354. doi: 10.1038/nature13921

PMCID:: PMC4323097

Abstract Article PDF–4.2M

Select item 203993617.

The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.

Velizar T. Tchernev, Traci A. Mansfield, Loic Giot, A. Madan Kumar, Krishnan Nandabalan, Ying Li, Vishnu S. Mishra, John C. Detter, Jonathan M. Rothberg, Margaret R. Wallace, Frederick S. Southwick, Stephen F. Kingsmore

Mol Med. 2002 Jan; 8(1): 56–64.

PMCID:: PMC2039936

Summary PDF–125K

Select item 649756918.

Spindle assembly checkpoint inhibition can resensitize p53-null stem cells to cancer chemotherapy

Changlong Liu, Carolyn E. Banister, Phillip J. Buckhaults

Cancer Res. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Cancer Res. 2019 May 1; 79(9): 2392–2403. Published online 2019 Mar 12. doi: 10.1158/0008-5472.CAN-18-3024

PMCID:: PMC6497569

Abstract Article PDF–2.2M

Select item 1086980019.

The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation

Christopher B. Nelson, Samuel Rogers, Kaushik Roychoudhury, Yaw Sing Tan, Caroline J. Atkinson, Alexander P. Sobinoff, Christopher G. Tomlinson, Anton Hsu, Robert Lu, Eloise Dray, Michelle Haber, Jamie I. Fletcher, Anthony J. Cesare, Rashmi S. Hegde, Hilda A. Pickett

Nat Commun. 2024; 15: 1385. Published online 2024 Feb 15. doi: 10.1038/s41467-024-45683-4

PMCID:: PMC10869800

Abstract Article PDF–9.3M

Select item 292829220.

The Protein Network Surrounding the Human Telomere Repeat Binding Factors TRF1, TRF2, and POT1

Richard J. Giannone, Hayes W. McDonald, Gregory B. Hurst, Rong-Fong Shen, Yisong Wang, Yie Liu

PLoS One. 2010; 5(8): e12407. Published online 2010 Aug 25. doi: 10.1371/journal.pone.0012407

PMCID:: PMC2928292

Abstract Article PDF–1.3M

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