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Items: 1 to 20 of 44

1.
A family study implicates GBE1 in the etiology of autism spectrum disorder
Miriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, Peter Diakumis, Haloom Rafehi, Kiymet Bozaoglu, Cherie C Green, Audrey Rattray, Savannah Young, Dana Alhuzaimi, Hayley S Mountford, Greta Gillies, Vesna Lukic, Tanya Vick, Keri Finlay, Bradley P Coe, Evan E Eichler, Martin B Delatycki, Sarah J Wilson, Melanie Bahlo, Ingrid E Scheffer, Paul J Lockhart
Hum Mutat. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Hum Mutat. 2022 Jan; 43(1): 16–29. Published online 2021 Oct 21. doi: 10.1002/humu.24289
PMCID:
PMC8720068
AbstractArticlePDF–1.2M
2.
Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma
Lifeng Li, Li Yang, Zhirui Fan, Wenhua Xue, Zhibo Shen, Yongliang Yuan, Xiangdong Sun, Dan Wang, Jingyao Lian, Liping Wang, Jie Zhao, Yi Zhang
Signal Transduct Target Ther. 2020; 5: 54. Published online 2020 May 22. doi: 10.1038/s41392-020-0152-8
PMCID:
PMC7242448
AbstractArticlePDF–14M
3.
Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity
Lifeng Li, Li Yang, Shiqi Cheng, Zhirui Fan, Zhibo Shen, Wenhua Xue, Yujia Zheng, Feng Li, Dong Wang, Kai Zhang, Jingyao Lian, Dan Wang, Zijia Zhu, Jie Zhao, Yi Zhang
Mol Cancer. 2019; 18: 108. Published online 2019 Jun 20. doi: 10.1186/s12943-019-1027-x
PMCID:
PMC6585057
AbstractArticlePDF–7.1M
4.
Branching Enzyme Deficiency: Expanding the Clinical Spectrum
Carmen Paradas, Hasan O. Akman, Carolina Ionete, Heather Lau, Peter N. Riskind, David E. Jones, Thomas W. Smith, Michio Hirano, Salvatore DiMauro
JAMA Neurol. Author manuscript; available in PMC 2018 Sep 21.
Published in final edited form as: JAMA Neurol. 2014 Jan; 71(1): 41–47. doi: 10.1001/jamaneurol.2013.4888
PMCID:
PMC6148323
AbstractArticlePDF–1.3M
5.
Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings
Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Levy, J. Michael Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissart, Bruno Barcelos Da Nobrega, Brent L. Fogel, Marvin R. Natowicz, Catherine Lubetzki, Alexandra Durr, Alexis Brice, Hanna Rosenmann, Varda Barash, Or Kakhlon, J. Moshe Gomori, Marjo S. van der Knaap, Alexander Lossos
Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.
Published in final edited form as: Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598
PMCID:
PMC4329926
AbstractArticlePDF–1.1M
6.
Neuromuscular forms of glycogen branching enzyme deficiency
C Bruno, D Cassandrini, S Assereto, H Orhan Akman, C Minetti, S Di Mauro
Acta Myol. 2007 Jul; 26(1): 75–78.
PMCID:
PMC2949312
AbstractArticlePDF–178K
7.
Abundant co-pathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions, and ageing-related tau astrogliopathy in a family with a GBE1 mutation
Maiko T Uemura, EunRan Suh, John L Robinson, Kurt R Brunden, Murray Grossman, David J Irwin, Virginia M-Y Lee, John Q Trojanowski, Edward B Lee, Vivianna M Van Deerlin
Neuropathol Appl Neurobiol. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Neuropathol Appl Neurobiol. 2023 Feb; 49(1): e12865. doi: 10.1111/nan.12865
PMCID:
PMC9992093
AbstractArticlePDF–2.3M
8.
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
D. Sean Froese, Amit Michaeli, Thomas J. McCorvie, Tobias Krojer, Meitav Sasi, Esther Melaev, Amiram Goldblum, Maria Zatsepin, Alexander Lossos, Rafael Álvarez, Pablo V. Escribá, Berge A. Minassian, Frank von Delft, Or Kakhlon, Wyatt W. Yue
Hum Mol Genet. 2015 Oct 15; 24(20): 5667–5676. Published online 2015 Jul 21. doi: 10.1093/hmg/ddv280
PMCID:
PMC4581599
AbstractArticlePDF–1.1M
9.
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Y Bao, P Kishnani, J Y Wu, Y T Chen
J Clin Invest. 1996 Feb 15; 97(4): 941–948. doi: 10.1172/JCI118517
PMCID:
PMC507139
SummaryPDF–364K
10.
The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein–protein interactions
Yuanqi Zhu, Mei Zhang, Amber Renee Kelly, Alan Cheng
Biosci Rep. 2014; 34(4): e00117. Prepublished online 2014 May 18. Published online 2014 Jul 1. doi: 10.1042/BSR20140053
PMCID:
PMC4076837
AbstractArticlePDF–1.1M
11.
The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia
Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, Juha Kere
PLoS Genet. 2005 Oct; 1(4): e50. Prepublished online 2005 Sep 21. Published online 2005 Oct 28. doi: 10.1371/journal.pgen.0010050
PMCID:
PMC1270007
AbstractArticlePDF–435K
12.
Hypoxia Promotes Glycogen Accumulation through Hypoxia Inducible Factor (HIF)-Mediated Induction of Glycogen Synthase 1
Nuria Pescador, Diego Villar, Daniel Cifuentes, Mar Garcia-Rocha, Amaya Ortiz-Barahona, Silvia Vazquez, Angel Ordoñez, Yolanda Cuevas, David Saez-Morales, Maria Laura Garcia-Bermejo, Manuel O. Landazuri, Joan Guinovart, Luis del Peso
PLoS One. 2010; 5(3): e9644. Published online 2010 Mar 12. doi: 10.1371/journal.pone.0009644
PMCID:
PMC2837373
AbstractArticlePDF–887K
13.
Analyses of shared genetic factors between asthma and obesity in children
Erik Melén, Blanca E. Himes, John Brehm, Nadia Boutaoui, Barbara J. Klanderman, Jody S. Sylvia, Jessica Lasky-Su
J Allergy Clin Immunol. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: J Allergy Clin Immunol. 2010 Sep; 126(3): 631–7.e1-8. doi: 10.1016/j.jaci.2010.06.030
PMCID:
PMC2941152
AbstractArticlePDF–72K
14.
Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia
Fabrizio Simeoni, Isabel Romero-Camarero, Francesco Camera, Fabio M.R. Amaral, Oliver J. Sinclair, Evangelia K. Papachristou, Gary J. Spencer, Michael Lie-A-Ling, Georges Lacaud, Daniel H. Wiseman, Jason S. Carroll, Tim C.P. Somervaille
Cell Rep. 2021 Sep 21; 36(12): 109725. Published online 2021 Sep 21. doi: 10.1016/j.celrep.2021.109725
PMCID:
PMC8480281
AbstractArticle
15.
A proteome-scale map of the SARS-CoV-2–human contactome
Dae-Kyum Kim, Benjamin Weller, Chung-Wen Lin, Dayag Sheykhkarimli, Jennifer J. Knapp, Guillaume Dugied, Andreas Zanzoni, Carles Pons, Marie J. Tofaute, Sibusiso B. Maseko, Kerstin Spirohn, Florent Laval, Luke Lambourne, Nishka Kishore, Ashyad Rayhan, Mayra Sauer, Veronika Young, Hridi Halder, Nora Marín-de la Rosa, Oxana Pogoutse, Alexandra Strobel, Patrick Schwehn, Roujia Li, Simin T. Rothballer, Melina Altmann, Patricia Cassonnet, Atina G. Coté, Lena Elorduy Vergara, Isaiah Hazelwood, Betty B. Liu, Maria Nguyen, Ramakrishnan Pandiarajan, Bushra Dohai, Patricia A. Rodriguez Coloma, Juline Poirson, Paolo Giuliana, Luc Willems, Mikko Taipale, Yves Jacob, Tong Hao, David E. Hill, Christine Brun, Jean-Claude Twizere, Daniel Krappmann, Matthias Heinig, Claudia Falter, Patrick Aloy, Caroline Demeret, Marc Vidal, Michael A. Calderwood, Frederick P. Roth, Pascal Falter-Braun
Nat Biotechnol. 2023; 41(1): 140–149. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01475-z
PMCID:
PMC9849141
AbstractArticlePDF–7.1M
16.
Targeting RICTOR sensitizes SMAD4-negative colon cancer to irinotecan
Chen Khuan Wong, Arthur William Lambert, Sait Ozturk, Panagiotis Papageorgis, Delia Lopez, Ning Shen, Zaina Sen, Hamid Mostafavi Abdolmaleky, Balázs Győrffy, Hui Feng, Sam Thiagalingam
Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Mol Cancer Res. 2020 Mar; 18(3): 414–423. Published online 2020 Jan 13. doi: 10.1158/1541-7786.MCR-19-0525
PMCID:
PMC7115128
AbstractArticlePDF–1.6M
17.
TRIM33 drives prostate tumor growth by stabilizing androgen receptor from Skp2‐mediated degradation
Mi Chen, Shreyas Lingadahalli, Nitin Narwade, Kate Man Kei Lei, Shanshan Liu, Zuxianglan Zhao, Yimin Zheng, Qian Lu, Alexander Hin Ning Tang, Terence Chuen Wai Poon, Edwin Cheung
EMBO Rep. 2022 Aug; 23(8): e53468. Published online 2022 Jul 4. doi: 10.15252/embr.202153468
PMCID:
PMC9346471
AbstractArticlePDF–5.2M
18.
Mitochondrial Raf1 Regulates Glutamine Catabolism
Ronald L. Shanderson, Ian D. Ferguson, Zurab Siprashvili, Luca Ducoli, Albert M. Li, Weili Miao, Suhas Srinivasan, Mary Grace Velasco, Yang Li, Jiangbin Ye, Paul A. Khavari
Version 1. bioRxiv. Preprint. 2024 Mar 9. doi: 10.1101/2024.03.08.581297
PMCID:
PMC10942467
AbstractArticlePDF–6.5M
19.
Hepatitis B Virus HBx Protein Mediates the Degradation of Host Restriction Factors through the Cullin 4 DDB1 E3 Ubiquitin Ligase Complex
Marissa M. Minor, F. Blaine Hollinger, Adrienne L. McNees, Sung Yun Jung, Antrix Jain, Joseph M. Hyser, Karl-Dimiter Bissig, Betty L. Slagle
Cells. 2020 Apr; 9(4): 834. Published online 2020 Mar 30. doi: 10.3390/cells9040834
PMCID:
PMC7226812
AbstractArticlePDF–2.3M
20.
VCP interaction with HMGB1 promotes hepatocellular carcinoma progression by activating the PI3K/AKT/mTOR pathway
Zhangya Pu, Dan G. Duda, Yuanyuan Zhu, Siya Pei, Xiaofang Wang, Yan Huang, Panpan Yi, Zebing Huang, Fang Peng, Xingwang Hu, Xuegong Fan
J Transl Med. 2022; 20: 212. Published online 2022 May 13. doi: 10.1186/s12967-022-03416-5
PMCID:
PMC9102726
AbstractArticlePDF–15M

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