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Select item 74461991.

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir, Hong Qing

BMC Med Genet. 2020; 21: 168. Published online 2020 Aug 24. doi: 10.1186/s12881-020-01095-x

PMCID:: PMC7446199

Article PDF–1.2M

Select item 47303212.

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

Yunhui Peng, Joy Norris, Charles Schwartz, Emil Alexov

Int J Mol Sci. 2016 Jan; 17(1): 77. Published online 2016 Jan 8. doi: 10.3390/ijms17010077

PMCID:: PMC4730321

Article PDF–1.3M

Select item 37498643.

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang, Charles Schwartz, Emil Alexov, Hilde Van Esch

Hum Mol Genet. 2013 Sep 15; 22(18): 3789–3797. Published online 2013 May 21. doi: 10.1093/hmg/ddt229

PMCID:: PMC3749864

Article PDF–614K

Select item 37211674.

A rational free energy-based approach to understanding and targeting disease-causing missense mutations

Zhe Zhang, Shawn Witham, Marharita Petukh, Gautier Moroy, Maria Miteva, Yoshihiko Ikeguchi, Emil Alexov

J Am Med Inform Assoc. 2013 Jul; 20(4): 643–651. Published online 2013 Feb 13. doi: 10.1136/amiajnl-2012-001505

PMCID:: PMC3721167

Article PDF–814K

Select item 35854065.

Enhancing Human Spermine Synthase Activity by Engineered Mutations

Zhe Zhang, Yueli Zheng, Margo Petukh, Anthony Pegg, Yoshihiko Ikeguchi, Emil Alexov

PLoS Comput Biol. 2013 Feb; 9(2): e1002924. Published online 2013 Feb 28. doi: 10.1371/journal.pcbi.1002924

PMCID:: PMC3585406

Article PDF–1.3M

Select item 33412136.

Spermine synthase overexpression in vivo does not increase susceptibility to DMBA/TPA skin carcinogenesis or Min-Apc intestinal tumorigenesis

Patricia A. Welsh, Suzanne Sass-Kuhn, Chethana Prakashagowda, Diane E. McCloskey, David J. Feith

Cancer Biol Ther. 2012 Apr 1; 13(6): 358–368. doi: 10.4161/cbt.19241

PMCID:: PMC3341213

Article PDF–357K

Select item 32596317.

Crystal Structure of Human Spermine Synthase: IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTIC MECHANISM

Hong Wu, Jinrong Min, Hong Zeng, Diane E. McCloskey, Yoshihiko Ikeguchi, Peter Loppnau, Anthony J. Michael, Anthony E. Pegg, Alexander N. Plotnikov

J Biol Chem. 2008 Jun 6; 283(23): 16135–16146. doi: 10.1074/jbc.M710323200

PMCID:: PMC3259631

Article PDF–881K

Select item 31035478.

In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov

PLoS One. 2011; 6(5): e20373. Published online 2011 May 27. doi: 10.1371/journal.pone.0020373

PMCID:: PMC3103547

Article PDF–792K

Select item 30616229.

The impact of spermine synthase (SMS) mutations on brain morphology

Shelli R. Kesler, Charles Schwartz, Roger E. Stevenson, Allan L. Reiss

Neurogenetics. Author manuscript; available in PMC 2011 Mar 21.

Published in final edited form as: Neurogenetics. 2009 Oct; 10(4): 299–305. Published online 2009 Mar 7. doi: 10.1007/s10048-009-0184-2

PMCID:: PMC3061622

Article PDF–503K

Select item 265310810.

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

L.E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D.E. McCloskey, X. Wang, A.E. Pegg, C.E. Schwartz, J. Sánchez-Corona, J.E. García-Ortiz

Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Am J Med Genet A. 2009 Mar; 149A(3): 328–335. doi: 10.1002/ajmg.a.32641

PMCID:: PMC2653108

Article PDF–4.4M

Select item 1093102611.

Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase

Amin Cressman, David Morales, Zhenyang Zhang, Bryan Le, Jackson Foley, Tracy Murray-Stewart, Damian C. Genetos, Fernando A. Fierro

Int J Mol Sci. 2024 Mar; 25(5): 2463. Published online 2024 Feb 20. doi: 10.3390/ijms25052463

PMCID:: PMC10931026

Article PDF–4.7M

Select item 639537212.

Myosin Va interacts with the exosomal protein spermine synthase

Luciano G. Dolce, Rui M. P. Silva-Junior, Leandro H. P. Assis, Andrey F. Z. Nascimento, Jackeline S. Araujo, Ingrid P. Meschede, Enilza M. Espreafico, Priscila O. de Giuseppe, Mário T. Murakami

Biosci Rep. 2019 Mar 29; 39(3): BSR20182189. Prepublished online 2019 Feb 7. Published online 2019 Mar 1. doi: 10.1042/BSR20182189

PMCID:: PMC6395372

Article PDF–1.1M

Select item 732013713.

Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression

Yubin Guo, Qing Ye, Pan Deng, Yanan Cao, Daheng He, Zhaohe Zhou, Chi Wang, Yekaterina Y. Zaytseva, Charles E. Schwartz, Eun Y. Lee, B. Mark Evers, Andrew J. Morris, Side Liu, Qing-Bai She

Nat Commun. 2020; 11: 3243. Published online 2020 Jun 26. doi: 10.1038/s41467-020-17067-x

PMCID:: PMC7320137

Article PDF–3.0M

Select item 299487014.

Association of Polyaminergic Loci With Anxiety, Mood Disorders, and Attempted Suicide

Laura M. Fiori, Brigitte Wanner, Valérie Jomphe, Jordie Croteau, Frank Vitaro, Richard E. Tremblay, Alexandre Bureau, Gustavo Turecki

PLoS One. 2010; 5(11): e15146. Published online 2010 Nov 30. doi: 10.1371/journal.pone.0015146

PMCID:: PMC2994870

Article PDF–162K

Select item 596587215.

Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrP^C) in Alzheimer’s disease

Sarah Ulbrich, Petra Janning, Ralf Seidel, Jakob Matschke, Anika Gonsberg, Sebastian Jung, Markus Glatzel, Martin Engelhard, Konstanze F. Winklhofer, Jörg Tatzelt

PLoS One. 2018; 13(5): e0197659. Published online 2018 May 23. doi: 10.1371/journal.pone.0197659

PMCID:: PMC5965872

Article PDF–2.4M

Select item 266528616.

The DNA sequence of the human X chromosome

Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley

Nature. Author manuscript; available in PMC 2009 Apr 5.

Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440

PMCID:: PMC2665286

Article PDF–1.0M

Select item 997863517.

Fibril treatment changes protein interactions of tau and α-synuclein in human neurons

Tagan A. Griffin, Paul D. Schnier, Elisa M. Cleveland, Robert W. Newberry, Julia Becker, George A. Carlson

J Biol Chem. 2023 Mar; 299(3): 102888. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102888

PMCID:: PMC9978635

Article PDF–10M

Select item 615850718.

KAP1 facilitates reinstatement of heterochromatin after DNA replication

Suk Min Jang, Annamaria Kauzlaric, Jean-Pierre Quivy, Julien Pontis, Benjamin Rauwel, Andrea Coluccio, Sandra Offner, Julien Duc, Priscilla Turelli, Geneviève Almouzni, Didier Trono

Nucleic Acids Res. 2018 Sep 28; 46(17): 8788–8802. Published online 2018 Jun 28. doi: 10.1093/nar/gky580

PMCID:: PMC6158507

Article PDF–9.4M

Select item 752370619.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9

PMCID:: PMC7523706

Article PDF–2.3M

Select item 554841320.

A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling

Parveen Kumar, Prathyusha Munnangi, KVS Rammohan Chowdary, Varun J. Shah, Swapnil R. Shinde, Nanci R. Kolli, Rachita R. Halehalli, Hampapathalu A. Nagarajaram, Subbareddy Maddika

J Proteome Res. 2017 Aug 4; 16(8): 2789–2801. Published online 2017 Jul 4. doi: 10.1021/acs.jproteome.7b00065

PMCID:: PMC5548413

Article PDF–5.2M

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