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Select item 85186781.

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

Anne Benner, Yazeid Alhaidan, Matthew A. Lines, Klaus Brusgaard, Diva D. De Leon, Rebecca Sparkes, Anja L. Frederiksen, Henrik T. Christesen

Am J Med Genet A. 2021 Oct; 185(10): 2959–2975. Published online 2021 Jun 12. doi: 10.1002/ajmg.a.62383

PMCID:: PMC8518678

Abstract Article PDF–2.4M

Select item 79535882.

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX

Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 12.

Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 299–305. Published online 2020 Oct 10. doi: 10.1016/j.ymgme.2020.10.004

PMCID:: PMC7953588

Abstract Article PDF–427K

Select item 64412103.

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

Junling Fu, Tong Wang, Xinhua Xiao

BMC Med Genet. 2019; 20: 56. Published online 2019 Mar 29. doi: 10.1186/s12881-019-0789-8

PMCID:: PMC6441210

Abstract Article PDF–751K

Select item 48390684.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe

BMC Med Genet. 2016; 17: 33. Published online 2016 Apr 21. doi: 10.1186/s12881-016-0295-1

PMCID:: PMC4839068

Abstract Article PDF–954K

Select item 18011195.

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

I E van den Berg, E A van Beurden, H E Malingré, H K van Amstel, B T Poll-The, J A Smeitink, W H Lamers, R Berger

Am J Hum Genet. 1995 Feb; 56(2): 381–387.

PMCID:: PMC1801119

Summary Page Browse PDF–1.4M

Select item 17064126.

X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.

F Huijing, J Fernandes

Am J Hum Genet. 1969 May; 21(3): 275–284.

Correction in:: Am J Hum Genet. 1969 Nov; 21(6): 643.

PMCID:: PMC1706412

Summary Page Browse PDF–966K

Select item 13778977.

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

J Hendrickx, P Lee, J P Keating, D Carton, I B Sardharwalla, M Tuchman, C Baussan, P J Willems

Am J Hum Genet. 1999 Jun; 64(6): 1541–1549. doi: 10.1086/302399

PMCID:: PMC1377897

Summary PDF–221K

Select item 94652918.

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu

Front Genet. 2022; 13: 932760. Published online 2022 Aug 29. doi: 10.3389/fgene.2022.932760

PMCID:: PMC9465291

Abstract Article PDF–1.5M

Select item 23239679.

Glucoamylase-like domains in the α- and β-subunits of phosphorylase kinase

Mark J. Pallen

Protein Sci. 2003 Aug; 12(8): 1804–1807. doi: 10.1110/ps.0371103

PMCID:: PMC2323967

Abstract Article PDF–283K

Select item 4860310.

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

J J Davidson, T Ozçelik, C Hamacher, P J Willems, U Francke, M W Kilimann

Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6): 2096–2100. doi: 10.1073/pnas.89.6.2096

PMCID:: PMC48603

Summary Page Browse PDF–1.2M

Select item 432443911.

Proteomic Analysis and Identification of Cellular Interactors of the Giant Ubiquitin Ligase HERC2

Jeffrey T. Galligan, Gustavo Martinez-Noël, Verena Arndt, Sebastian Hayes, Thomas W. Chittenden, J. Wade Harper, Peter M. Howley

J Proteome Res. 2015 Feb 6; 14(2): 953–966. Published online 2014 Dec 4. doi: 10.1021/pr501005v

PMCID:: PMC4324439

Abstract Article PDF–7.5M

Select item 145936512.

Phosphoproteome analysis of the human mitotic spindle

Marjaana Nousiainen, Herman H. W. Silljé, Guido Sauer, Erich A. Nigg, Roman Körner

Proc Natl Acad Sci U S A. 2006 Apr 4; 103(14): 5391–5396. Published online 2006 Mar 24. doi: 10.1073/pnas.0507066103

PMCID:: PMC1459365

Abstract Article PDF–370K

Select item 828276413.

N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation

Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas

Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.

Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017

PMCID:: PMC8282764

Abstract Article PDF–3.4M

Select item 874425714.

The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins

Mickaële Hémono, Alexandre Haller, Johana Chicher, Anne-Marie Duchêne, Richard Patryk Ngondo

BMC Biol. 2022; 20: 13. Published online 2022 Jan 10. doi: 10.1186/s12915-021-01213-y

PMCID:: PMC8744257

Abstract Article PDF–6.0M

Select item 794845215.

A conserved acetylation switch enables pharmacological control of tubby-like protein stability

Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard

J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839

PMCID:: PMC7948452

Abstract Article PDF–3.6M

Select item 191354516.

Functional specialization of β-arrestin interactions revealed by proteomic analysis

Kunhong Xiao, Daniel B. McClatchy, Arun K. Shukla, Yang Zhao, Minyong Chen, Sudha K. Shenoy, John R. Yates, III, Robert J. Lefkowitz

Proc Natl Acad Sci U S A. 2007 Jul 17; 104(29): 12011–12016. Published online 2007 Jul 9. doi: 10.1073/pnas.0704849104

PMCID:: PMC1913545

Abstract Article PDF–712K

Select item 266528617.

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 44214818.

Functional Proteomics Mapping of a Human Signaling Pathway

Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier

Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104

PMCID:: PMC442148

Abstract Article PDF–290K

Select item 1061767319.

The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation

Xin Gu, Christopher Nardone, Nolan Kamitaki, Aoyue Mao, Stephen J. Elledge, Michael E. Greenberg

Science. Author manuscript; available in PMC 2023 Oct 31.

Published in final edited form as: Science. 2023 Aug 25; 381(6660): eadh5021. Published online 2023 Aug 25. doi: 10.1126/science.adh5021

PMCID:: PMC10617673

Abstract Article PDF–3.6M

Select item 433215020.

Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes

Xu Li, Wenqi Wang, Jiadong Wang, Anna Malovannaya, Yuanxin Xi, Wei Li, Rudy Guerra, David H Hawke, Jun Qin, Junjie Chen

Mol Syst Biol. 2015 Jan; 11(1): 775. Published online 2015 Jan 21. doi: 10.15252/msb.20145504

PMCID:: PMC4332150

Abstract Article PDF–2.8M

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