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Items: 1 to 20 of 23

1.
Phenotypic Evolution of UNC80 Loss of Function
Elise Valkanas, Katherine Schaffer, Christopher Dunham, Valerie Maduro, Christèle du Souich, Rosemarie Rupps, David R. Adams, Alireza Baradaran-Heravi, Elise Flynn, May C. Malicdan, William A. Gahl, Camilo Toro, Cornelius F. Boerkoel
Am J Med Genet A. Author manuscript; available in PMC 2017 Nov 5.
Published in final edited form as: Am J Med Genet A. 2016 Dec; 170(12): 3106–3114. Published online 2016 Aug 11. doi: 10.1002/ajmg.a.37929
PMCID:
PMC5671762
AbstractArticlePDF–802K
2.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E. Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Marielle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo-Graovac, Clara D.M. van Karnebeek, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, James R. Lupski, Dejian Ren, Grace Yoon
Am J Hum Genet. 2016 Jan 7; 98(1): 202–209. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.004
PMCID:
PMC4716670
AbstractArticlePDF–904K
3.
Sodium Leak Channels in Neuronal Excitability and Rhythmic Behaviors
Dejian Ren
Neuron. Author manuscript; available in PMC 2012 Dec 22.
Published in final edited form as: Neuron. 2011 Dec 22; 72(6): 899–911. doi: 10.1016/j.neuron.2011.12.007
PMCID:
PMC3247702
AbstractArticlePDF–2.1M
4.
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
5.
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
6.
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
7.
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80
Boxun Lu, Yanhua Su, Sudipto Das, Haikun Wang, Yan Wang, Jin Liu, Dejian Ren
Nature. Author manuscript; available in PMC 2010 Jan 24.
Published in final edited form as: Nature. 2009 Feb 5; 457(7230): 741–744. Published online 2008 Dec 17. doi: 10.1038/nature07579
PMCID:
PMC2810458
AbstractArticlePDF–901K
8.
UNC80 functions as a scaffold for Src kinases in NALCN channel function
Haikun Wang, Dejian Ren
Channels (Austin) Author manuscript; available in PMC 2010 Jan 24.
Published in final edited form as: Channels (Austin). 2009 May–Jun; 3(3): 161–163. Published online 2009 May 27. doi: 10.4161/chan.3.3.8853
PMCID:
PMC2810456
AbstractArticlePDF–943K
9.
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
10.
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
11.
Extracellular Calcium Controls Background Current and Neuronal Excitability via an UNC79-UNC80-NALCN Cation Channel Complex
Boxun Lu, Qi Zhang, Haikun Wang, Yan Wang, Manabu Nakayama, Dejian Ren
Neuron. Author manuscript; available in PMC 2011 Nov 4.
Published in final edited form as: Neuron. 2010 Nov 4; 68(3): 488–499. doi: 10.1016/j.neuron.2010.09.014
PMCID:
PMC2987630
AbstractArticlePDF–1.5M
12.
A Putative Cation Channel, NCA-1, and a Novel Protein, UNC-80, Transmit Neuronal Activity in C. elegans
Edward Yeh, Sharon Ng, Mi Zhang, Magali Bouhours, Ying Wang, Min Wang, Wesley Hung, Kyota Aoyagi, Katya Melnik-Martinez, Michelle Li, Fang Liu, William R Schafer, Mei Zhen
PLoS Biol. 2008 Mar; 6(3): e55. Published online 2008 Mar 11. doi: 10.1371/journal.pbio.0060055
PMCID:
PMC2265767
AbstractArticlePDF–1.0M
13.
Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation
Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen
Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2
PMCID:
PMC7863430
AbstractArticlePDF–6.5M
14.
TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex
Virginia Guarani, Joao Paulo, Bo Zhai, Edward L. Huttlin, Steven P. Gygi, J. Wade Harper
Mol Cell Biol. 2014 Mar; 34(5): 847–861. doi: 10.1128/MCB.01551-13
PMCID:
PMC4023825
AbstractArticlePDF–5.5M
15.
A Global Analysis of The Receptor Tyrosine Kinase – Protein Phosphatase Interactome
Zhong Yao, Katelyn Darowski, Nicole St-Denis, Victoria Wong, Fabian Offensperger, Annabel Villedieu, Shahreen Amin, Ramy Malty, Hiroyuki Aoki, Hongbo Guo, Yang Xu, Caterina Iorio, Max Kotlyar, Andrew Emili, Igor Jurisica, Benjamin G Neel, Mohan Babu, Anne-Claude Gingras, Igor Stagljar
Mol Cell. Author manuscript; available in PMC 2017 Oct 31.
Published in final edited form as: Mol Cell. 2017 Jan 19; 65(2): 347–360. Published online 2017 Jan 5. doi: 10.1016/j.molcel.2016.12.004
PMCID:
PMC5663465
AbstractArticlePDF–2.1M
16.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K
17.
Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity
Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller
Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119
PMCID:
PMC6942044
AbstractArticlePDF–10M
18.
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics
Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2011 Dec 10.
Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017
PMCID:
PMC3008586
AbstractArticlePDF–3.0M
19.
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili
Cell. Author manuscript; available in PMC 2013 Aug 31.
Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011
PMCID:
PMC3477804
AbstractArticlePDF–7.7M
20.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M

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