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Items: 17

1.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar, Aljazi Al-Maraghi, Ning Liu, Emily Sites, Hessa S Alsaif, Mohammad Al-Owain, Mohamed Zakkariah, Ehab El-Anany, Ulviyya Guliyeva, Sughra Guliyeva, Colette Gaba, Ateeq Haseeb, Amal M Alhashem, Enam Danish, Vasiliki Karageorgou, Christian Beetz, Alaa A Subhi, Sureni V Mullegama, Erin Torti, Monisha Sebastin, Margo Sheck Breilyn, Susan Duberstein, Mohamed S Abdel-Hamid, Tadahiro Mitani, Haowei Du, Jill A Rosenfeld, Shalini N Jhangiani, Zeynep Coban Akdemir, Richard A Gibbs, Jenny C Taylor, Khalid A Fakhro, Jill V Hunter, Davut Pehlivan, Maha S Zaki, Joseph G Gleeson, Reza Maroofian, Henry Houlden, Jennifer E Posey, V Reid Sutton, Fowzan S Alkuraya, Sarah H Elsea, James R Lupski
Brain. 2022 Mar; 145(3): 909–924. Published online 2021 Oct 4. doi: 10.1093/brain/awab369
PMCID:
PMC9050560
AbstractArticlePDF–1.7M
2.
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
3.
Manganese-Induced Downregulation of Astroglial Glutamine Transporter SNAT3 Involves Ubiquitin-Mediated Proteolytic System
MARTA SIDORYK-WECGRZYNOWICZ, EUN-SOOK LEE, MINGWEI NI, MICHAEL ASCHNER
Glia. Author manuscript; available in PMC 2020 Feb 3.
Published in final edited form as: Glia. 2010 Dec; 58(16): 1905–1912. doi: 10.1002/glia.21060
PMCID:
PMC6996538
AbstractArticlePDF–1.1M
4.
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
5.
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
6.
Establishment and Dysfunction of the Blood-Brain Barrier
Zhen Zhao, Amy R. Nelson, Christer Betsholtz, Berislav V. Zlokovic
Cell. Author manuscript; available in PMC 2016 Nov 19.
Published in final edited form as: Cell. 2015 Nov 19; 163(5): 1064–1078. doi: 10.1016/j.cell.2015.10.067
PMCID:
PMC4655822
AbstractArticlePDF–1.4M
7.
Expression of Glutamine Transporter Slc38a3 (SNAT3) During Acidosis is Mediated by a Different Mechanism than Tissue-Specific Expression
Sarojini Balkrishna, Angelika Bröer, Scott M. Welford, Maria Hatzoglou, Stefan Bröer
Cell Physiol Biochem. Author manuscript; available in PMC 2015 May 16.
Published in final edited form as: Cell Physiol Biochem. 2014; 33(5): 1591–1606. Published online 2014 May 16. doi: 10.1159/000358722
PMCID:
PMC4424794
AbstractArticlePDF–1.8M
8.
Toward an understanding of the protein interaction network of the human liver
Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang
Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67
Correction in:
Mol Syst Biol. 2017 Dec; 13(12): 965.
PMCID:
PMC3261708
AbstractArticlePDF–2.0M
9.
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
10.
The LIFEdb database in 2006
Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann
Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139
PMCID:
PMC1347501
AbstractArticlePDF–301K
11.
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
AbstractArticlePDF–375K
12.
From ORFeome to Biology: A Functional Genomics Pipeline
Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka
Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704
PMCID:
PMC528930
AbstractArticlePDF–459K
13.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
14.
Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
AbstractArticlePDF–181K
15.
Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs
Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka
Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701
PMCID:
PMC311072
AbstractArticlePDF–542K
16.
DNA Cloning Using In Vitro Site-Specific Recombination
James L. Hartley, Gary F. Temple, Michael A. Brasch
Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000
PMCID:
PMC310948
AbstractArticlePDF–1.7M
17.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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