PMC Links for Gene (Select 10991) - PMC

Select item 90505601.

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

Article PDF–1.7M

Select item 44247942.

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

Article PDF–1.8M

Select item 69965383.

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

Article PDF–1.1M

Select item 46558224.

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

Article PDF–1.4M

Select item 63350995.

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

Article

Select item 10837326.

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

Article PDF–375K

Select item 13475017.

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

Article PDF–301K

Select item 5289308.

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

Article PDF–459K

Select item 3110729.

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

Article PDF–542K

Select item 31094810.

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

Article PDF–1.7M

Select item 51531611.

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

Article PDF–181K

Select item 326170812.

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

Article PDF–2.0M

Select item 553161113.

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

Article PDF–2.7M

Select item 816503014.

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