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Items: 1 to 20 of 34

1.
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
Zhenyu Liao, Yali Liu, Yimin Wang, Qin Lu, Yu Peng, Qingsong Liu
Front Pediatr. 2022; 10: 927392. Published online 2022 Jul 13. doi: 10.3389/fped.2022.927392
PMCID:
PMC9326163
AbstractArticlePDF–906K
2.
mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells
David A. Merle, Francesca Provenzano, Mohamed Ali Jarboui, Ellen Kilger, Simon J. Clark, Michela Deleidi, Angela Armento, Marius Ueffing
Antioxidants (Basel) 2021 Dec; 10(12): 1944. Published online 2021 Dec 3. doi: 10.3390/antiox10121944
PMCID:
PMC8750186
AbstractArticlePDF–2.7M
3.
Structure of the human sodium leak channel NALCN in complex with FAM155A
Jiongfang Xie, Meng Ke, Lizhen Xu, Shiyi Lin, Jin Huang, Jiabei Zhang, Fan Yang, Jianping Wu, Zhen Yan
Nat Commun. 2020; 11: 5831. Published online 2020 Nov 17. doi: 10.1038/s41467-020-19667-z
PMCID:
PMC7672056
AbstractArticlePDF–3.4M
4.
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex
Jinhong Wie, Apoorva Bharthur, Morgan Wolfgang, Vinodh Narayanan, Keri Ramsey, C4RCD Research Group, Kimberly Aranda, Qi Zhang, Yandong Zhou, Dejian Ren
Nat Commun. 2020; 11: 3351. Published online 2020 Jul 3. doi: 10.1038/s41467-020-17105-8
PMCID:
PMC7335163
AbstractArticlePDF–2.3M
5.
The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium
H. C. Chua, M. Wulf, C. Weidling, L. P. Rasmussen, S. A. Pless
Sci Adv. 2020 Apr; 6(17): eaaz3154. Published online 2020 Apr 24. doi: 10.1126/sciadv.aaz3154
PMCID:
PMC7182417
AbstractArticlePDF–12M
6.
Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells
Seul-Yi Lee, Tuan Anh Vuong, Xianlan Wen, Hyeon-Ju Jeong, Hyun-Kyung So, Ilmin Kwon, Jong-Sun Kang, Hana Cho
Exp Mol Med. 2019 Oct; 51(10): 119. Published online 2019 Oct 10. doi: 10.1038/s12276-019-0325-0
PMCID:
PMC6802672
AbstractArticlePDF–1.8M
7.
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties
Malik Bouasse, Hathaichanok Impheng, Zoe Servant, Philippe Lory, Arnaud Monteil
Sci Rep. 2019; 9: 11791. Published online 2019 Aug 13. doi: 10.1038/s41598-019-48071-x
PMCID:
PMC6692409
AbstractArticlePDF–3.3M
8.
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek
Hum Genet. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 753–768. Published online 2018 Aug 23. doi: 10.1007/s00439-018-1929-5
PMCID:
PMC6671679
AbstractArticlePDF–649K
9.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
10.
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F. Hahn, Helge Boman
Ann Clin Transl Neurol. 2016 Nov; 3(11): 876–883. Published online 2016 Oct 11. doi: 10.1002/acn3.362
PMCID:
PMC5099533
AbstractArticlePDF–1.8M
11.
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
Eric G. Bend, Yue Si, David A. Stevenson, Pinar Bayrak-Toydemir, Tara M. Newcomb, Erik M. Jorgensen, Kathryn J. Swoboda
Neurology. 2016 Sep 13; 87(11): 1131–1139. doi: 10.1212/WNL.0000000000003095
PMCID:
PMC5027803
AbstractArticlePDF–1.0M
12.
Nalcn Is a “Leak” Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing
Yingtang Shi, Chikara Abe, Benjamin B. Holloway, Shaofang Shu, Natasha N. Kumar, Janelle L. Weaver, Josh Sen, Edward Perez-Reyes, Ruth L. Stornetta, Patrice G. Guyenet, Douglas A. Bayliss
J Neurosci. 2016 Aug 3; 36(31): 8174–8187. doi: 10.1523/JNEUROSCI.1096-16.2016
PMCID:
PMC4971364
AbstractArticlePDF–3.1M
13.
Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia
Qingqing Zhou, Jing Yang, Bei Cao, Yongping Chen, Qianqian Wei, Ruwei Ou, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
Parkinsons Dis. 2016; 2016: 9281790. Published online 2016 Apr 28. doi: 10.1155/2016/9281790
PMCID:
PMC4864546
AbstractArticlePDF–488K
14.
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya
Am J Hum Genet. 2016 Jan 7; 98(1): 210–215. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.013
PMCID:
PMC4716667
AbstractArticlePDF–1.1M
15.
Sodium leak channel, non-selective contributes to the leak current in human myometrial smooth muscle cells from pregnant women
Erin L. Reinl, Rafael Cabeza, Ismail A. Gregory, Alison G. Cahill, Sarah K. England
Mol Hum Reprod. 2015 Oct; 21(10): 816–824. Published online 2015 Jul 1. doi: 10.1093/molehr/gav038
PMCID:
PMC4586347
AbstractArticlePDF–446K
16.
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad Haldeman-Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Malgorzata J.M. Nowaczyk, Jolien S. Klein Wassink-Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad
Am J Hum Genet. 2015 Mar 5; 96(3): 462–473. doi: 10.1016/j.ajhg.2015.01.003
PMCID:
PMC4375444
AbstractArticlePDF–882K
17.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
18.
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
Kin Y Mok, Susanne A Schneider, Daniah Trabzuni, Maria Stamelou, Mark Edwards, Dalia Kasperaviciute, Stuart Pickering-Brown, Monty Silverdale, John Hardy, Kailash P Bhatia
Mov Disord. 2014 Feb; 29(2): 245–251. Published online 2013 Nov 13. doi: 10.1002/mds.25732
PMCID:
PMC4208301
AbstractArticlePDF–560K
19.
Probing nuclear pore complex architecture with proximity-dependent biotinylation
Dae In Kim, Birendra KC, Wenhong Zhu, Khatereh Motamedchaboki, Valérie Doye, Kyle J. Roux
Proc Natl Acad Sci U S A. 2014 Jun 17; 111(24): E2453–E2461. Published online 2014 Jun 3. doi: 10.1073/pnas.1406459111
PMCID:
PMC4066523
AbstractArticlePDF–1.6M
20.
The sodium leak channel, NALCN, in health and disease
Maud Cochet-Bissuel, Philippe Lory, Arnaud Monteil
Front Cell Neurosci. 2014; 8: 132. Published online 2014 May 20. doi: 10.3389/fncel.2014.00132
PMCID:
PMC4033012
AbstractArticlePDF–1.0M

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