PMC Links for Protein (Select 124174) - PMC

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Select item 54727621.

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase

Mykhaylo Demydchuk, Chris H. Hill, Aiwu Zhou, Gábor Bunkóczi, Penelope E. Stein, Denis Marchesan, Janet E. Deane, Randy J. Read

Nat Commun. 2017; 8: 15786. Published online 2017 Jun 8. doi: 10.1038/ncomms15786

PMCID:: PMC5472762

Abstract Article PDF–1.9M

Select item 26652862.

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

Abstract Article PDF–1.0M

Select item 19148893.

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

M. Rathmann, S. Bunge, M. Beck, H. Kresse, A. Tylki-Szymanska, A. Gal

Am J Hum Genet. 1996 Dec; 59(6): 1202–1209.

PMCID:: PMC1914889

Summary Page Browse PDF–1.4M

Select item 18011634.

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

J J Jonsson, E L Aronovich, S E Braun, C B Whitley

Am J Hum Genet. 1995 Mar; 56(3): 597–607.

PMCID:: PMC1801163

Summary Page Browse PDF–2.0M

Select item 17629415.

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)

P. Li, A. Bellows, J. Thompson

J Med Genet. 1999 Jan; 36(1): 21–27.

PMCID:: PMC1762941

Summary PDF–190K

Select item 17571546.

MPS II in females: molecular basis of two different cases

S. CUDRY, I. TIGAUD, R. FROISSART, V. BONNET, I. MAIRE, D. BOZON

J Med Genet. 2000 Oct; 37(10): e29. doi: 10.1136/jmg.37.10.e29

PMCID:: PMC1757154

Summary PDF–140K

Select item 17176807.

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)

E Vafiadaki, A Cooper, L Heptinstall, C Hatton, M Thornley, J Wraith

Arch Dis Child. 1998 Sep; 79(3): 237–241. doi: 10.1136/adc.79.3.237

PMCID:: PMC1717680

Summary PDF–121K

Select item 11357498.

Processing of iduronate 2-sulphatase in human fibroblasts.

R Froissart, G Millat, M Mathieu, D Bozon, I Maire

Biochem J. 1995 Jul 15; 309(Pt 2): 425–430. doi: 10.1042/bj3090425

PMCID:: PMC1135749

Summary Page Browse PDF–1.5M

Select item 5289289.

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

Abstract Article PDF–140K

Select item 5499010.

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

P J Wilson, C P Morris, D S Anson, T Occhiodoro, J Bielicki, P R Clements, J J Hopwood

Proc Natl Acad Sci U S A. 1990 Nov; 87(21): 8531–8535. doi: 10.1073/pnas.87.21.8531

PMCID:: PMC54990

Summary Page Browse PDF–1.1M

Select item 701410211.

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Bruno Hay Mele, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

Int J Mol Sci. 2020 Jan; 21(2): 489. Published online 2020 Jan 13. doi: 10.3390/ijms21020489

PMCID:: PMC7014102

Abstract Article PDF–2.5M

Select item 640509012.

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions

Amani Hassan, Stefan Parent, Hélène Mathieu, Charlotte Zaouter, Sirinart Molidperee, Edward T. Bagu, Soraya Barchi, Isabelle Villemure, Shunmoogum A. Patten, Florina Moldovan

PLoS One. 2019; 14(3): e0213269. Published online 2019 Mar 7. doi: 10.1371/journal.pone.0213269

PMCID:: PMC6405090

Abstract Article PDF–1.8M

Select item 598873013.

Neuromelanin organelles are specialized autolysosomes that accumulate undegraded proteins and lipids in aging human brain and are likely involved in Parkinson’s disease

Fabio A. Zucca, Renzo Vanna, Francesca A. Cupaioli, Chiara Bellei, Antonella De Palma, Dario Di Silvestre, Pierluigi Mauri, Sara Grassi, Alessandro Prinetti, Luigi Casella, David Sulzer, Luigi Zecca

NPJ Parkinsons Dis. 2018; 4: 17. Published online 2018 Jun 5. doi: 10.1038/s41531-018-0050-8

PMCID:: PMC5988730

Abstract Article PDF–2.9M

Select item 581348914.

The Maternal Plasma Proteome Changes as a Function of Gestational Age in Normal Pregnancy: a Longitudinal Study

Roberto Romero, Offer Erez, Eli Maymon, Piya Chaemsaithong, Zhonghui Xu, Percy Pacora, Tinnakorn Chaiworapongsa, Bogdan Done, Sonia S. Hassan, Adi L. Tarca

Am J Obstet Gynecol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Am J Obstet Gynecol. 2017 Jul; 217(1): 67.e1–67.e21. Published online 2017 Mar 3. doi: 10.1016/j.ajog.2017.02.037

PMCID:: PMC5813489

Abstract Article PDF–872K

Select item 574636915.

Proteomic changes in cerebrospinal fluid from primary central nervous system lymphoma patients are associated with protein ectodomain shedding

Daniel Michael Waldera-Lupa, Omid Etemad-Parishanzadeh, Mareike Brocksieper, Nina Kirchgaessler, Sabine Seidel, Thomas Kowalski, Manuel Montesinos-Rongen, Martina Deckert, Uwe Schlegel, Kai Stühler

Oncotarget. 2017 Dec 15; 8(66): 110118–110132. Published online 2017 Nov 24. doi: 10.18632/oncotarget.22654