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Items: 1 to 20 of 54

1.
A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families
Sulman Basit, Omhani Malibari, Alia Mahmood Al Balwi, Firoz Abdusamad, Feras Abu Ismail
Ann Saudi Med. 2014 Sep-Oct; 34(5): 390–395. doi: 10.5144/0256-4947.2014.390
PMCID:
PMC6074555
AbstractArticlePDF–2.1M
2.
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos, Celia Rodd
CMAJ. 2015 Feb 3; 187(2): E68–E73. doi: 10.1503/cmaj.140840
PMCID:
PMC4312169
AbstractArticlePDF–114K
3.
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
S Lucchiari, D Santoro, S Pagliarani, GP Comi
Acta Myol. 2007 Jul; 26(1): 72–74.
PMCID:
PMC2949315
AbstractArticlePDF–145K
4.
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions
Alan Cheng, Mei Zhang, Minoru Okubo, Kaoru Omichi, Alan R. Saltiel
Hum Mol Genet. 2009 Jun 1; 18(11): 2045–2052. Published online 2009 Mar 19. doi: 10.1093/hmg/ddp128
PMCID:
PMC2678930
AbstractArticlePDF–444K
5.
Loss of glycogen debranching enzyme AGL drives bladder tumor growth via induction of hyaluronic acid synthesis
Sunny Guin, Yuanbin Ru, Neeraj Agarwal, Carolyn R. Lew, Charles Owens, Giacomo P. Comi, Dan Theodorescu
Clin Cancer Res. Author manuscript; available in PMC 2017 Mar 1.
Published in final edited form as: Clin Cancer Res. 2016 Mar 1; 22(5): 1274–1283. Published online 2015 Oct 21. doi: 10.1158/1078-0432.CCR-15-1706
PMCID:
PMC4775343
AbstractArticlePDF–1.3M
6.
Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.
Y T Chen, J K He, J H Ding, B I Brown
Am J Hum Genet. 1987 Dec; 41(6): 1002–1015.
PMCID:
PMC1684360
SummaryPage BrowsePDF–1.9M
7.
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
J Shen, Y Bao, H M Liu, P Lee, J V Leonard, Y T Chen
J Clin Invest. 1996 Jul 15; 98(2): 352–357. doi: 10.1172/JCI118799
PMCID:
PMC507437
SummaryPDF–195K
8.
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
M Orho, N U Bosshard, N R Buist, R Gitzelmann, A Aynsley-Green, P Blümel, M C Gannon, F Q Nuttall, L C Groop
J Clin Invest. 1998 Aug 1; 102(3): 507–515. doi: 10.1172/JCI2890
PMCID:
PMC508911
SummaryPDF–1.3M
9.
The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein–protein interactions
Yuanqi Zhu, Mei Zhang, Amber Renee Kelly, Alan Cheng
Biosci Rep. 2014; 34(4): e00117. Prepublished online 2014 May 18. Published online 2014 Jul 1. doi: 10.1042/BSR20140053
PMCID:
PMC4076837
AbstractArticlePDF–1.1M
10.
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease
Alan Cheng, Mei Zhang, Matthew S. Gentry, Carolyn A. Worby, Jack E. Dixon, Alan R. Saltiel
Genes Dev. 2007 Oct 1; 21(19): 2399–2409. doi: 10.1101/gad.1553207
PMCID:
PMC1993871
AbstractArticlePDF–745K
11.
Co-adaptor driven assembly of a CUL3 E3 ligase complex
David Akopian, Colleen A. McGourty, Michael Rapé
Mol Cell. Author manuscript; available in PMC 2023 Feb 3.
Published in final edited form as: Mol Cell. 2022 Feb 3; 82(3): 585–597.e11. doi: 10.1016/j.molcel.2022.01.004
PMCID:
PMC8884472
AbstractArticlePDF–2.2M
12.
Genome-wide association study of lung function decline in adults with and without asthma
Medea Imboden, Emmanuelle Bouzigon, Ivan Curjuric, Adaikalavan Ramasamy, Ashish Kumar, Dana B Hancock, Jemma B Wilk, Judith M Vonk, Gian A Thun, Valerie Siroux, Rachel Nadif, Florent Monier, Juan R Gonzalez, Matthias Wjst, Joachim Heinrich, Laura R Loehr, Nora Franceschini, Kari E North, Janine Altmüller, Gerard H. Koppelman, Stefano Guerra, Florian Kronenberg, Mark Lathrop, Miriam F Moffatt, George T O’Connor, David P Strachan, Dirkje S Postma, Stephanie J London, Christian Schindler, Manolis Kogevinas, Francine Kauffmann, Debbie L Jarvis, Florence Demenais, Nicole M Probst-Hensch
J Allergy Clin Immunol. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: J Allergy Clin Immunol. 2012 May; 129(5): 1218–1228. Published online 2012 Mar 16. doi: 10.1016/j.jaci.2012.01.074
PMCID:
PMC3340499
AbstractArticlePDF–1.1M
13.
Nonstructural protein 1 widespread RNA decay phenotype varies among coronaviruses
Yahaira Bermudez, Jacob Miles, Mandy Muller
iScience. 2023 Jan 20; 26(1): 105887. Published online 2022 Dec 28. doi: 10.1016/j.isci.2022.105887
PMCID:
PMC9794394
AbstractArticlePDF–2.6M
14.
The dynamic interactome of human Aha1 upon Y223 phosphorylation
Donald Wolfgeher, Diana M. Dunn, Mark R. Woodford, Dimitra Bourboulia, Gennady Bratslavsky, Mehdi Mollapour, Stephen J. Kron, Andrew W. Truman
Data Brief. 2015 Dec; 5: 752–755. Published online 2015 Nov 6. doi: 10.1016/j.dib.2015.10.028
PMCID:
PMC4659802
AbstractArticlePDF–150K
15.
Ubiquitin‐Activated Interaction Traps (UBAITs) identify E3 ligase binding partners
Hazel F O'Connor, Nancy Lyon, Justin W Leung, Poonam Agarwal, Caleb D Swaim, Kyle M Miller, Jon M Huibregtse
EMBO Rep. 2015 Dec; 16(12): 1699–1712. Published online 2015 Oct 27. doi: 10.15252/embr.201540620
PMCID:
PMC4693525
AbstractArticlePDF–693K
16.
14-3-3-affinity purification of over 200 human phosphoproteins reveals new links to regulation of cellular metabolism, proliferation and trafficking.
Mercedes Pozuelo Rubio, Kathryn M Geraghty, Barry H C Wong, Nicola T Wood, David G Campbell, Nick Morrice, Carol Mackintosh
Biochem J. 2004 Apr 15; 379(Pt 2): 395–408. doi: 10.1042/BJ20031797
PMCID:
PMC1224091
SummaryPDF–323K
17.
Protein Interaction Screening for the Ankyrin Repeats and Suppressor of Cytokine Signaling (SOCS) Box (ASB) Family Identify Asb11 as a Novel Endoplasmic Reticulum Resident Ubiquitin Ligase
Christina Aaen Andresen, Stine Smedegaard, Kathrine Beck Sylvestersen, Charlotte Svensson, Diego Iglesias-Gato, Giuseppe Cazzamali, Tine Kragh Nielsen, Michael Lund Nielsen, Amilcar Flores-Morales
J Biol Chem. 2014 Jan 24; 289(4): 2043–2054. Published online 2013 Dec 11. doi: 10.1074/jbc.M113.534602
PMCID:
PMC3900953
AbstractArticlePDF–1.7M
18.
RSPO–LGR4 functions via IQGAP1 to potentiate Wnt signaling
Kendra S. Carmon, Xing Gong, Jing Yi, Anthony Thomas, Qingyun Liu
Proc Natl Acad Sci U S A. 2014 Apr 1; 111(13): E1221–E1229. Published online 2014 Mar 17. doi: 10.1073/pnas.1323106111
PMCID:
PMC3977305
AbstractArticlePDF–1.7M
19.
FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells
Nadia Habel, Najla El-Hachem, Frédéric Soysouvanh, Hanene Hadhiri-Bzioueche, Serena Giuliano, Sophie Nguyen, Pavel Horák, Anne-Sophie Gay, Delphine Debayle, Nicolas Nottet, Guillaume Béranger, Brigitte Bressac-de Paillerets, Corine Bertolotto, Robert Ballotti
Cell Death Differ. 2021 Jun; 28(6): 1837–1848. Published online 2021 Jan 18. doi: 10.1038/s41418-020-00710-x
PMCID:
PMC8184796
AbstractArticlePDF–2.4M
20.
ARIH2 is a Vif-dependent regulator of CUL5-mediated APOBEC3G degradation in HIV infection
Ruth Hüttenhain, Jiewei Xu, Lily A. Burton, David E. Gordon, Judd F. Hultquist, Jeffrey R. Johnson, Laura Satkamp, Joseph Hiatt, David Y. Rhee, Kheewoong Baek, David C. Crosby, Alan D. Frankel, Alexander Marson, J. Wade Harper, Arno F. Alpi, Brenda A. Schulman, John D. Gross, Nevan J. Krogan
Cell Host Microbe. Author manuscript; available in PMC 2020 Jul 10.
Published in final edited form as: Cell Host Microbe. 2019 Jul 10; 26(1): 86–99.e7. Published online 2019 Jun 25. doi: 10.1016/j.chom.2019.05.008
PMCID:
PMC7153695
AbstractArticlePDF–2.6M

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