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Items: 1 to 20 of 67

1.
Galactokinase deficiency: lessons from the GalNet registry
M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, M. Luz Couce, Aurélie Empain, Can Ficicioglu, Natalia Juliá Palacios, Mariela M. De Los Santos De Pelegrin, Isabel A. Rivera, Sabine Scholl-Bürgi, Annet M. Bosch, David Cassiman, Didem Demirbas, Matthias Gautschi, Ina Knerr, Philippe Labrune, Anastasia Skouma, Patrick Verloo, Saskia B. Wortmann, Eileen P. Treacy, David J. Timson, Gerard T. Berry
Genet Med. 2021; 23(1): 202–210. Published online 2020 Aug 18. doi: 10.1038/s41436-020-00942-9
PMCID:
PMC7790741
AbstractArticlePDF–707K
2.
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
Afshan Yasmeen, S. Amer Riazuddin, Haiba Kaul, Sadia Mohsin, Mohsin Khan, Zaheeruddin A. Qazi, Idrees A. Nasir, Ahmad U. Zafar, Shaheen N. Khan, Tayyab Husnain, Javed Akram, J. Fielding Hejtmancik, Sheikh Riazuddin
Mol Vis. 2010; 16: 682–688. Published online 2010 Apr 15.
PMCID:
PMC2855732
AbstractArticlePDF–2.8M
3.
A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype
Hyung-Doo Park, Yoon-Kyoung Kim, Kyoung Un Park, Jin Q Kim, Young-Han Song, Junghan Song
BMC Med Genet. 2009; 10: 29. Published online 2009 Mar 24. doi: 10.1186/1471-2350-10-29
PMCID:
PMC2667498
AbstractArticlePDF–593K
4.
A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)
Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer, Arseni Markov, Vanya Nedkova, Ivailo Tournev, Lidia Aneva, Richard Gitzelmann
Am J Hum Genet. 1999 Nov; 65(5): 1299–1307. Published online 1999 Oct 11. doi: 10.1086/302611
PMCID:
PMC1288282
AbstractArticlePDF–355K
5.
A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians
Yoshiyuki Okano, Minoru Asada, Akie Fujimoto, Akira Ohtake, Koichiro Murayama, Kwang-Jen Hsiao, Kyuchul Choeh, Yanling Yang, Qixiang Cao, Juergen K. V. Reichardt, Shizuhiro Niihira, Takuji Imamura, Tsunekazu Yamano
Am J Hum Genet. 2001 Apr; 68(4): 1036–1042. Published online 2001 Feb 23. doi: 10.1086/319512
PMCID:
PMC1275622
AbstractArticlePDF–639K
6.
Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa
Katarina Davalieva, Sanja Kiprijanovska, Ognen Ivanovski, Aleksandar Trifunovski, Skender Saidi, Aleksandar Dimovski, Zivko Popov
Int J Mol Sci. 2023 Oct; 24(19): 14938. Published online 2023 Oct 6. doi: 10.3390/ijms241914938
PMCID:
PMC10573217
AbstractArticlePDF–4.2M
7.
Sugar recognition by human galactokinase
David J Timson, Richard J Reece
BMC Biochem. 2003; 4: 16. Published online 2003 Nov 4. doi: 10.1186/1471-2091-4-16
PMCID:
PMC280648
AbstractArticlePDF–1.7M
8.
LUBAC assembles a ubiquitin signaling platform at mitochondria for signal amplification and transport of NF‐κB to the nucleus
Zhixiao Wu, Lena A Berlemann, Verian Bader, Dominik A Sehr, Eva Dawin, Alberto Covallero, Jens Meschede, Lena Angersbach, Cathrin Showkat, Jonas B Michaelis, Christian Münch, Bettina Rieger, Dmitry Namgaladze, Maria Georgina Herrera, Fabienne C Fiesel, Wolfdieter Springer, Marta Mendes, Jennifer Stepien, Katalin Barkovits, Katrin Marcus, Albert Sickmann, Gunnar Dittmar, Karin B Busch, Dietmar Riedel, Marisa Brini, Jörg Tatzelt, Tito Cali, Konstanze F Winklhofer
EMBO J. 2022 Dec; 41(24): e112006. Published online 2022 Nov 18. doi: 10.15252/embj.2022112006
PMCID:
PMC9753471
AbstractArticlePDF–4.3M
9.
The deubiquitinase USP9X regulates FBW7 stability and suppresses colorectal cancer
Omar M. Khan, Joana Carvalho, Bradley Spencer-Dene, Richard Mitter, David Frith, Ambrosius P. Snijders, Stephen A. Wood, Axel Behrens
J Clin Invest. 2018 Apr 2; 128(4): 1326–1337. Published online 2018 Feb 26. doi: 10.1172/JCI97325
PMCID:
PMC5873885
AbstractArticlePDF–16M
10.
Energy stress-induced lncRNA FILNC1 represses c-Myc-mediated energy metabolism and inhibits renal tumor development
Zhen-Dong Xiao, Leng Han, Hyemin Lee, Li Zhuang, Yilei Zhang, Joelle Baddour, Deepak Nagrath, Christopher G. Wood, Jian Gu, Xifeng Wu, Han Liang, Boyi Gan
Nat Commun. 2017; 8: 783. Published online 2017 Oct 4. doi: 10.1038/s41467-017-00902-z
PMCID:
PMC5627275
AbstractArticlePDF–1.1M
11.
CRL4AMBRA1 targets Elongin C for ubiquitination and degradation to modulate CRL5 signaling
Si‐Han Chen, Gwendolyn M Jang, Ruth Hüttenhain, David E Gordon, Dan Du, Billy W Newton, Jeffrey R Johnson, Joseph Hiatt, Judd F Hultquist, Tasha L Johnson, Yi‐Liang Liu, Lily A Burton, Jordan Ye, Kurt M Reichermeier, Robert M Stroud, Alexander Marson, Jayanta Debnath, John D Gross, Nevan J Krogan
EMBO J. 2018 Sep 14; 37(18): e97508. Published online 2018 Aug 30. doi: 10.15252/embj.201797508
PMCID:
PMC6138441
AbstractArticlePDF–1.7M
12.
The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex
Wentao Zhang, Ning Duan, Qian Zhang, Tao Song, Zhong Li, Xun Chen, Kunzheng Wang
Int J Biol Sci. 2018; 14(14): 2023–2036. Published online 2018 Nov 3. doi: 10.7150/ijbs.28302
PMCID:
PMC6299368
AbstractArticlePDF–2.0M
13.
Interactome profiling reveals interaction of SARS-CoV-2 NSP13 with host factor STAT1 to suppress interferon signaling
Kuan Feng, Yuan-Qin Min, Xiulian Sun, Fei Deng, Peiqing Li, Hualin Wang, Yun-Jia Ning
J Mol Cell Biol. 2021 Oct; 13(10): 760–762. Published online 2021 Oct 23. doi: 10.1093/jmcb/mjab068
PMCID:
PMC8574307
ArticlePDF–764K
14.
Defining human ERAD networks through an integrative mapping strategy
John C. Christianson, James A. Olzmann, Thomas A. Shaler, Mathew E. Sowa, Eric J. Bennett, Caleb M. Richter, Ryan E. Tyler, Ethan J. Greenblatt, J. Wade Harper, Ron R. Kopito
Nat Cell Biol. Author manuscript; available in PMC 2012 Jul 1.
Published in final edited form as: Nat Cell Biol. 2012 Jan; 14(1): 93–105. Published online 2011 Nov 27. doi: 10.1038/ncb2383
PMCID:
PMC3250479
AbstractArticlePDF–2.7M
15.
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
16.
Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved
Tabish Hussain, Jaeho Lee, Martin C. Abba, Junjie Chen, C. Marcelo Aldaz
Front Oncol. 2018; 8: 591. Published online 2018 Dec 13. doi: 10.3389/fonc.2018.00591
PMCID:
PMC6300487
AbstractArticlePDF–1.8M
17.
Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis
Weicheng Zang, Chuanzhen Yang, Tingting Li, Liming Liao, Xiaofeng Zheng
Proc Natl Acad Sci U S A. 2019 Dec 17; 116(51): 25624–25633. Published online 2019 Dec 3. doi: 10.1073/pnas.1910250116
PMCID:
PMC6926050
AbstractArticlePDF–1.4M
18.
Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol. Author manuscript; available in PMC 2017 Sep 20.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
AbstractArticlePDF–3.4M
19.
BioID reveals an ATG9A interaction with ATG13‐ATG101 in the degradation of p62/SQSTM1‐ubiquitin clusters
Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen
EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136
PMCID:
PMC8490997
AbstractArticlePDF–4.5M
20.
SILAC-Based Proteomics of Human Primary Endothelial Cell Morphogenesis Unveils Tumor Angiogenic Markers
Sara Zanivan, Federica Maione, Marco Y. Hein, Juan Ramon Hernández-Fernaud, Pawel Ostasiewicz, Enrico Giraudo, Matthias Mann
Mol Cell Proteomics. 2013 Dec; 12(12): 3599–3611. Published online 2013 Aug 26. doi: 10.1074/mcp.M113.031344
PMCID:
PMC3861710
AbstractArticlePDF–2.3M

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