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Items: 1 to 20 of 42

1.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
AbstractArticlePDF–1.0M
2.
Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides
Min Woo Sung, Zhongying Yang, Camden M. Driggers, Bruce L. Patton, Barmak Mostofian, John D. Russo, Daniel M. Zuckerman, Show-Ling Shyng
Proc Natl Acad Sci U S A. 2021 Nov 2; 118(44): e2109441118. Published online 2021 Oct 28. doi: 10.1073/pnas.2109441118
PMCID:
PMC8694068
AbstractArticlePDF–3.1M
3.
Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico
Cells. 2021 Jul; 10(7): 1791. Published online 2021 Jul 15. doi: 10.3390/cells10071791
PMCID:
PMC8307364
AbstractArticlePDF–4.3M
4.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
5.
The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia
Benlan Yin, Yujiao Zhang, Xiaohong Wei, Chunrong Pang, Ting Hou, Chao Yang, Yuzhi Ning, Xiaodong Fu
Sci Rep. 2021; 11: 7955. Published online 2021 Apr 12. doi: 10.1038/s41598-021-87146-6
PMCID:
PMC8041753
AbstractArticlePDF–1.3M
6.
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
Lauren E. Parker, Andrew P. Landstrom
J Am Heart Assoc. 2021 Jan 19; 10(2): e019006. Published online 2021 Jan 12. doi: 10.1161/JAHA.120.019006
PMCID:
PMC7955312
AbstractArticlePDF–503K
7.
Novel cholesterol‐dependent regulation of cardiac KATP subunit expression revealed using histone deacetylase inhibitors
Robert Geiger, Naheed Fatima, James F. Schooley, Jr., Jeremy T. Smyth, Mark C. Haigney, Thomas P. Flagg
Physiol Rep. 2021 Jan; 8(24): e14675. Published online 2020 Dec 23. doi: 10.14814/phy2.14675
PMCID:
PMC7757372
AbstractArticlePDF–1.3M
8.
SARS-CoV-2 Disrupts Splicing, Translation, and Protein Trafficking to Suppress Host Defenses
Abhik K. Banerjee, Mario R. Blanco, Emily A. Bruce, Drew D. Honson, Linlin M. Chen, Amy Chow, Prashant Bhat, Noah Ollikainen, Sofia A. Quinodoz, Colin Loney, Jasmine Thai, Zachary D. Miller, Aaron E. Lin, Madaline M. Schmidt, Douglas G. Stewart, Daniel Goldfarb, Giuditta De Lorenzo, Suzannah J. Rihn, Rebecca M. Voorhees, Jason W. Botten, Devdoot Majumdar, Mitchell Guttman
Cell. 2020 Nov 25; 183(5): 1325–1339.e21. doi: 10.1016/j.cell.2020.10.004
PMCID:
PMC7543886
AbstractArticle
9.
Three‐dimensional facial morphology in Cantú syndrome
Helen I. Roessler, Kathleen Shields, Dorothy K. Grange, Nine V.A.M. Knoers, Gijs van Haaften, Peter Hammond, Mieke M. van Haelst
Am J Med Genet A. 2020 May; 182(5): 1041–1052. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61517
PMCID:
PMC7217184
AbstractArticlePDF–2.4M
10.
STUB1 is targeted by the SUMO-interacting motif of EBNA1 to maintain Epstein-Barr Virus latency
Yuyan Wang, Shujuan Du, Caixia Zhu, Chong Wang, Nuoya Yu, Ziqi Lin, Jin Gan, Yi Guo, Xinxin Huang, Yuping He, Erle Robertson, Di Qu, Fang Wei, Qiliang Cai
PLoS Pathog. 2020 Mar; 16(3): e1008447. Published online 2020 Mar 16. doi: 10.1371/journal.ppat.1008447
PMCID:
PMC7105294
AbstractArticlePDF–4.4M
11.
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Marie F. Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften
Nat Commun. 2019; 10: 4457. Published online 2019 Oct 1. doi: 10.1038/s41467-019-12428-7
PMCID:
PMC6773855
AbstractArticlePDF–5.9M
12.
Blood-Brain Barrier: From Physiology to Disease and Back
Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic
Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017
PMCID:
PMC6335099
AbstractArticle
13.
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel
Paige E. Cooper, Conor McClenaghan, Xingyu Chen, Anna Stary-Weinzinger, Colin G. Nichols
J Biol Chem. 2017 Oct 20; 292(42): 17387–17398. Published online 2017 Aug 23. doi: 10.1074/jbc.M117.804971
PMCID:
PMC5655515
AbstractArticlePDF–3.2M
14.
Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2
Yuriko Katsumata, Peter T. Nelson, Sally R. Ellingson, David W. Fardo
Neurobiol Aging. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Neurobiol Aging. 2017 May; 53: 193.e17–193.e25. Published online 2017 Jan 9. doi: 10.1016/j.neurobiolaging.2017.01.003
PMCID:
PMC5385271
AbstractArticlePDF–1.4M
15.
Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel
Paige E. Cooper, Monica Sala-Rabanal, Sun Joo Lee, Colin G. Nichols
J Gen Physiol. 2015 Dec; 146(6): 527–540. doi: 10.1085/jgp.201511495
PMCID:
PMC4664827
AbstractArticlePDF–3.0M
16.
ABCC9/SUR2 in the brain: implications for hippocampal sclerosis of aging and a potential therapeutic target
Peter T. Nelson, Gregory A. Jicha, Wang-Xia Wang, Eseosa Ighodaro, Sergey Artiushin, Colin G. Nichols, David W. Fardo
Ageing Res Rev. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Ageing Res Rev. 2015 Nov; 24(0 0): 111–125. Published online 2015 Jul 28. doi: 10.1016/j.arr.2015.07.007
PMCID:
PMC4661124
AbstractArticlePDF–3.8M
17.
Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity
Mohammad Fatehi, Chris R.J. Carter, Nermeen Youssef, Beth E. Hunter, Andrew Holt, Peter E. Light
Biosci Rep. 2015 Aug; 35(4): e00238. Prepublished online 2015 Jul 7. Published online 2015 Aug 18. doi: 10.1042/BSR20150143
PMCID:
PMC4613687
AbstractArticlePDF–1.2M
18.
Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome
Julianne H. Grose, Kelsey Langston, Xiaohui Wang, Shayne Squires, Soumyajit Banerjee Mustafi, Whitney Hayes, Jonathan Neubert, Susan K. Fischer, Matthew Fasano, Gina Moore Saunders, Qiang Dai, Elisabeth Christians, E. Douglas Lewandowski, Peipei Ping, Ivor J. Benjamin
PLoS One. 2015; 10(10): e0133994. Published online 2015 Oct 14. doi: 10.1371/journal.pone.0133994
PMCID:
PMC4605610
AbstractArticlePDF–6.8M
19.
Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging
Peter T. Nelson, Wang-Xia Wang, Bernard R. Wilfred, Angela Wei, James Dimayuga, Qingwei Huang, Eseosa Ighodaro, Sergey Artiushin, David W. Fardo
J Neurochem. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: J Neurochem. 2015 Sep; 134(6): 1026–1039. Published online 2015 Jul 15. doi: 10.1111/jnc.13202
PMCID:
PMC4593479
AbstractArticlePDF–4.5M
20.
Reassessment of Risk Genotypes (GRN, TMEM106B, and ABCC9 Variants) Associated with Hippocampal Sclerosis of Aging Pathology
Peter T. Nelson, Wang-Xia Wang, Amanda B. Partch, Sarah E. Monsell, Otto Valladares, Sally R. Ellingson, Bernard R. Wilfred, Adam C. Naj, Li-San Wang, Walter A. Kukull, David W. Fardo
J Neuropathol Exp Neurol. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: J Neuropathol Exp Neurol. 2015 Jan; 74(1): 75–84. doi: 10.1097/NEN.0000000000000151
PMCID:
PMC4270894
AbstractArticlePDF–741K

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