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Items: 1 to 20 of 26

1.
Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model
Qing Wu, Li Ma, Lena Joesch-Cohen, Michael Schmidt, Ece D. Gamsiz Uzun, Eric M. Morrow
Biol Open. 2023 Nov 15; 12(11): bio059778. Published online 2023 Nov 29. doi: 10.1242/bio.059778
PMCID:
PMC10695175
AbstractArticlePDF–1.6M
2.
Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
AbstractArticlePDF–6.3M
3.
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
Syeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, Fardous Fardous, Sher Alam Khan, Niamatullah Khan, Adil U Rehman, Mehwish Siddique, Shoukat Ali Wasan, Rooh Niaz, Hafiz Ullah, Niamat Khan, Noor Muhammad, Muhammad Usman Mirza, Naveed Wasif, Saadullah Khan
BMC Neurol. 2023; 23: 353. Published online 2023 Oct 4. doi: 10.1186/s12883-023-03397-y
PMCID:
PMC10548666
AbstractArticlePDF–2.3M
4.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
5.
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
6.
SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses
Unghwi Lee, Chunghon Choi, Seung Hyun Ryu, Daehun Park, Sang-Eun Lee, Kitae Kim, Yujin Kim, Sunghoe Chang
Proc Natl Acad Sci U S A. 2021 Jan 12; 118(2): e2011371118. Published online 2020 Dec 28. doi: 10.1073/pnas.2011371118
PMCID:
PMC7812776
AbstractArticlePDF–2.0M
7.
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
Alina Ilie, Annie Boucher, Jaeok Park, Albert Marinus Berghuis, R. Anne McKinney, John Orlowski
J Biol Chem. 2020 May 15; 295(20): 7075–7095. Published online 2020 Apr 10. doi: 10.1074/jbc.RA120.012614
PMCID:
PMC7242699
AbstractArticlePDF–3.8M
8.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
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.
Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance
Fabrice Lucien, Pierre-Paul Pelletier, Roxane R. Lavoie, Jean-Michel Lacroix, Sébastien Roy, Jean-Luc Parent, Dominique Arsenault, Kelly Harper, Claire M. Dubois
Nat Commun. 2017; 8: 15884. Published online 2017 Jun 21. doi: 10.1038/ncomms15884
PMCID:
PMC5482059
AbstractArticlePDF–1.9M
11.
A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death
Alina Ilie, Andy Y. L. Gao, Jonathan Reid, Annie Boucher, Cassandra McEwan, Hervé Barrière, Gergely L. Lukacs, R. Anne McKinney, John Orlowski
Mol Neurodegener. 2016; 11(1): 63. Published online 2016 Sep 2. doi: 10.1186/s13024-016-0129-9
PMCID:
PMC5010692
AbstractArticlePDF–2.6M
12.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
13.
High Capacity Na+/H+ Exchange Activity in Mineralizing Osteoblasts
Li Liu, Paul H. Schlesinger, Nicole M. Slack, Peter A. Friedman, Harry C. Blair
J Cell Physiol. Author manuscript; available in PMC 2015 Jun 7.
Published in final edited form as: J Cell Physiol. 2011 Jun; 226(6): 1702–1712. doi: 10.1002/jcp.22501
PMCID:
PMC4458346
AbstractArticlePDF–612K
14.
The Na+/H+ Exchanger NHE6 Modulates Endosomal pH to Control Processing of Amyloid Precursor Protein in a Cell Culture Model of Alzheimer Disease
Hari Prasad, Rajini Rao
J Biol Chem. 2015 Feb 27; 290(9): 5311–5327. Published online 2015 Jan 5. doi: 10.1074/jbc.M114.602219
PMCID:
PMC4342450
AbstractArticlePDF–4.3M
15.
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow
Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225
PMCID:
PMC4304796
AbstractArticlePDF–1.2M
16.
Macropinocytosis and TAK1 mediate anti-inflammatory to pro-inflammatory macrophage differentiation by HIV-1 Nef
M Hashimoto, H Nasser, T Chihara, S Suzu
Cell Death Dis. 2014 May; 5(5): e1267. Published online 2014 May 29. doi: 10.1038/cddis.2014.233
PMCID:
PMC4047869
AbstractArticlePDF–974K
17.
Genes for endosomal NHE6 and NHE9 are misregulated in autism brains
M Schwede, K Garbett, K Mirnics, D H Geschwind, E M Morrow
Mol Psychiatry. 2014 Mar; 19(3): 277–279. Published online 2013 Mar 19. doi: 10.1038/mp.2013.28
PMCID:
PMC3932404
ArticlePDF–270K
18.
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development
Qing Ouyang, Sofia B. Lizarraga, Michael Schmidt, Unikora Yang, Jingyi Gong, Debra Ellisor, Julie A. Kauer, Eric M. Morrow
Neuron. Author manuscript; available in PMC 2014 Oct 2.
Published in final edited form as: Neuron. 2013 Oct 2; 80(1): 10.1016/j.neuron.2013.07.043. Published online 2013 Sep 12. doi: 10.1016/j.neuron.2013.07.043
PMCID:
PMC3830955
AbstractArticlePDF–3.5M
19.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
20.
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome
Yann Fichou, Nadia Bahi-Buisson, Juliette Nectoux, Jamel Chelly, Delphine Héron, Laurence Cuisset, Thierry Bienvenu
Eur J Hum Genet. 2009 Nov; 17(11): 1378–1380. Published online 2009 May 27. doi: 10.1038/ejhg.2009.82
PMCID:
PMC2986687
ArticlePDF–62K

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