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Select item 53032391.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek, Maria Blomqvist

Orphanet J Rare Dis. 2017; 12: 28. Published online 2017 Feb 10. doi: 10.1186/s13023-017-0584-6

PMCID:: PMC5303239

Abstract Article PDF–1002K

Select item 35087142.

Free Sialic Acid Storage Disease without sialuria

F. Mochel, B.Z. Yang, J. Barritault, J.N. Thompson, U.F.H. Engelke, N.H McNeill, W.S. Benko, C.R. Kaneski, D.R. Adams, M. Tsokos, M. Abu-Asab, M. Huizing, F. Seguin, R.A. Wevers, J.H. Ding, F.W. Verheijen, R. Schiffmann

Ann Neurol. Author manuscript; available in PMC 2012 Nov 28.

Published in final edited form as: Ann Neurol. 2009 Jun; 65(6): 753–757. doi: 10.1002/ana.21624

PMCID:: PMC3508714

Abstract Article PDF–497K

Select item 33228323.

Successful Prediction of Substrate-binding Pocket in SLC17 Transporter Sialin

Nicolas Pietrancosta, Christine Anne, Horst Prescher, Raquel Ruivo, Corinne Sagné, Cécile Debacker, Hugues-Olivier Bertrand, Reinhard Brossmer, Francine Acher, Bruno Gasnier

J Biol Chem. 2012 Mar 30; 287(14): 11489–11497. Published online 2012 Feb 13. doi: 10.1074/jbc.M111.313056

PMCID:: PMC3322832

Abstract Article PDF–1.6M

Select item 21713604.

G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking

Nathaniel J. Myall, Christopher C. Wreden, Marcin Wlizla, Richard J. Reimer

Mol Genet Metab. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Mol Genet Metab. 2007 Dec; 92(4): 371–374. Published online 2007 Oct 22. doi: 10.1016/j.ymgme.2007.08.121

PMCID:: PMC2171360

Abstract Article PDF–410K

Select item 19182025.

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

L. Haataja, J. Schleutker, A. P. Laine, M. Renlund, M. L. Savontaus, C. Dib, J. Weissenbach, L. Peltonen, P. Aula

Am J Hum Genet. 1994 Jun; 54(6): 1042–1049.

PMCID:: PMC1918202

Summary Page Browse PDF–1.0M

Select item 17922496.

Sialic acid storage disease.

P D Cameron, V Dubowitz, G T Besley, A H Fensom

Arch Dis Child. 1990 Mar; 65(3): 314–315. doi: 10.1136/adc.65.3.314

PMCID:: PMC1792249

Summary Page Browse PDF–515K

Select item 12878887.

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen

Am J Hum Genet. 2000 Oct; 67(4): 832–840. Published online 2000 Aug 17. doi: 10.1086/303077

PMCID:: PMC1287888

Abstract Article PDF–342K

Select item 5330508.

Functional characterization of wild-type and mutant human sialin

Pierre Morin, Corinne Sagné, Bruno Gasnier

EMBO J. 2004 Nov 24; 23(23): 4560–4570. Published online 2004 Oct 28. doi: 10.1038/sj.emboj.7600464

PMCID:: PMC533050

Abstract Article PDF–454K

Select item 2951669.

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

G M Mancini, C E Beerens, P P Aula, F W Verheijen

J Clin Invest. 1991 Apr; 87(4): 1329–1335. doi: 10.1172/JCI115136

PMCID:: PMC295166

Summary Page Browse PDF–1.4M

Select item 510786910.

Association of the Aspartate Aminotransferase to Alanine Aminotransferase Ratio with BNP Level and Cardiovascular Mortality in the General Population: The Yamagata Study 10-Year Follow-Up

Miyuki Yokoyama, Tetsu Watanabe, Yoichiro Otaki, Hiroki Takahashi, Takanori Arimoto, Tetsuro Shishido, Takuya Miyamoto, Tsuneo Konta, Yoko Shibata, Makoto Daimon, Yoshiyuki Ueno, Takeo Kato, Takamasa Kayama, Isao Kubota

Dis Markers. 2016; 2016: 4857917. Published online 2016 Oct 31. doi: 10.1155/2016/4857917

PMCID:: PMC5107869

Abstract Article PDF–906K

Select item 342117011.

Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane

Lizheng Qin, Xibao Liu, Qifei Sun, Zhipeng Fan, Dengsheng Xia, Gang Ding, Hwei Ling Ong, David Adams, William A. Gahl, Changyu Zheng, Senrong Qi, Luyuan Jin, Chunmei Zhang, Liankun Gu, Junqi He, Dajun Deng, Indu S. Ambudkar, Songlin Wang

Proc Natl Acad Sci U S A. 2012 Aug 14; 109(33): 13434–13439. Published online 2012 Jul 9. doi: 10.1073/pnas.1116633109

PMCID:: PMC3421170

Abstract Article PDF–1.4M

Select item 288521012.

Structure-Function Studies of the SLC17 Transporter Sialin Identify Crucial Residues and Substrate-induced Conformational Changes

Pascal Courville, Matthias Quick, Richard J. Reimer

J Biol Chem. 2010 Jun 18; 285(25): 19316–19323. Published online 2010 Apr 27. doi: 10.1074/jbc.M110.130716

PMCID:: PMC2885210

Abstract Article PDF–1.4M

Select item 257533113.

Identification of a vesicular aspartate transporter

Takaaki Miyaji, Noriko Echigo, Miki Hiasa, Shigenori Senoh, Hiroshi Omote, Yoshinori Moriyama

Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33): 11720–11724. Published online 2008 Aug 11. doi: 10.1073/pnas.0804015105

PMCID:: PMC2575331

Abstract Article PDF–597K

Select item 509804114.

TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions

Charles A. S. Banks, Gina Boanca, Zachary T. Lee, Cassandra G. Eubanks, Gaye L. Hattem, Allison Peak, Lauren E. Weems, Juliana J. Conkright, Laurence Florens, Michael P. Washburn

Mol Cell Proteomics. 2016 Nov; 15(11): 3435–3449. Published online 2016 Sep 8. doi: 10.1074/mcp.M116.060509

PMCID:: PMC5098041

Abstract Article PDF–2.1M

Select item 51531615.

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

Abstract Article PDF–181K

Select item 319082616.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

Select item 294516817.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583218.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 289646419.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 461721120.

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

Abstract Article PDF–2.2M

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