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Items: 1 to 20 of 72

1.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J. Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L. Ladda, Susan L. Sell, Catherine B. Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V. Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A. Gahl, Ellen F. Macnamara, Lynne Wolfe, Undiagnosed Diseases Network, Quinten Waisfisz, Petra J. G. Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C. Kruer, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, David Cassiman, Frédéric M. Vaz
Genet Med. 2021; 23(4): 740–750. Published online 2020 Nov 26. doi: 10.1038/s41436-020-01027-3
Correction in:
Genet Med. 2021; 23(12): 2467.
PMCID:
PMC8026396
AbstractArticlePDF–1.0M
2.
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
Rebecca Buchert, Hasan Tawamie, Christopher Smith, Steffen Uebe, A. Micheil Innes, Bassam Al Hallak, Arif B. Ekici, Heinrich Sticht, Bernd Schwarze, Ryan E. Lamont, Jillian S. Parboosingh, Francois P. Bernier, Rami Abou Jamra
Am J Hum Genet. 2014 Nov 6; 95(5): 602–610. doi: 10.1016/j.ajhg.2014.10.003
PMCID:
PMC4225589
AbstractArticlePDF–1.3M
3.
Posttranslational Regulation of Fatty Acyl-CoA Reductase 1, Far1, Controls Ether Glycerophospholipid Synthesis
Masanori Honsho, Shunsuke Asaoku, Yukio Fujiki
J Biol Chem. 2010 Mar 19; 285(12): 8537–8542. Published online 2010 Jan 13. doi: 10.1074/jbc.M109.083311
PMCID:
PMC2838275
AbstractArticlePDF–995K
4.
Topogenesis and Homeostasis of Fatty Acyl-CoA Reductase 1
Masanori Honsho, Shunsuke Asaoku, Keiko Fukumoto, Yukio Fujiki
J Biol Chem. 2013 Nov 29; 288(48): 34588–34598. Published online 2013 Oct 9. doi: 10.1074/jbc.M113.498345
PMCID:
PMC3843072
AbstractArticlePDF–1.1M
5.
Mammalian Wax Biosynthesis: I. IDENTIFICATION OF TWO FATTY ACYL-COENZYME A REDUCTASES WITH DIFFERENT SUBSTRATE SPECIFICITIES AND TISSUE DISTRIBUTIONS
Jeffrey B. Cheng, David W. Russell
J Biol Chem. Author manuscript; available in PMC 2009 Oct 5.
Published in final edited form as: J Biol Chem. 2004 Sep 3; 279(36): 37789–37797. Published online 2004 Jun 27. doi: 10.1074/jbc.M406225200
PMCID:
PMC2757098
AbstractArticlePDF–1.1M
6.
Mammalian Wax Biosynthesis: II. EXPRESSION CLONING OF WAX SYNTHASE cDNAs ENCODING A MEMBER OF THE ACYLTRANSFERASE ENZYME FAMILY
Jeffrey B. Cheng, David W. Russell
J Biol Chem. Author manuscript; available in PMC 2009 Sep 14.
Published in final edited form as: J Biol Chem. 2004 Sep 3; 279(36): 37798–37807. Published online 2004 Jun 27. doi: 10.1074/jbc.M406226200
PMCID:
PMC2743083
AbstractArticlePDF–1.1M
7.
Restriction factor screening identifies RABGAP1L-mediated disruption of endocytosis as a host antiviral defense
Sonja Fernbach, Eva E. Spieler, Idoia Busnadiego, Umut Karakus, Anouk Lkharrazi, Silke Stertz, Benjamin G. Hale
Cell Rep. 2022 Mar 22; 38(12): 110549. Published online 2022 Mar 22. doi: 10.1016/j.celrep.2022.110549
PMCID:
PMC8939003
AbstractArticlePDF–5.6M
8.
The Shieldin complex mediates 53BP1-dependent DNA repair
Sylvie M. Noordermeer, Salomé Adam, Dheva Setiaputra, Marco Barazas, Stephen J. Pettitt, Alexanda K. Ling, Michele Olivieri, Alejandro Álvarez-Quilón, Nathalie Moatti, Michal Zimmermann, Stefano Annunziato, Dragomir B. Krastev, Feifei Song, Inger Brandsma, Jessica Frankum, Rachel Brough, Alana Sherker, Sébastien Landry, Rachel K. Szilard, Meagan M. Munro, Andrea McEwan, Théo Goullet de Rugy, Zhen-Yuan Lin, Traver Hart, Jason Moffat, Anne-Claude Gingras, Alberto Martin, Haico van Attikum, Jos Jonkers, Christopher J. Lord, Sven Rottenberg, Daniel Durocher
Nature. Author manuscript; available in PMC 2019 Jan 18.
Published in final edited form as: Nature. 2018 Aug; 560(7716): 117–121. Published online 2018 Jul 18. doi: 10.1038/s41586-018-0340-7
PMCID:
PMC6141009
AbstractArticlePDF–5.1M
9.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Xiaonan Liu, Nina Brandstack, Andrew J Buckton, Tiina Laine, Johanna Känsäkoski, Matti Hero, Päivi J Miettinen, Markku Varjosalo, Emma Wakeling, Mehul T Dattani, Taneli Raivio
J Clin Endocrinol Metab. 2020 Jun; 105(6): 1748–1758. Published online 2020 Feb 15. doi: 10.1210/clinem/dgaa078
PMCID:
PMC7138537
AbstractArticle
10.
CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI
Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods
Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3
PMCID:
PMC6584691
AbstractArticlePDF–1.6M
11.
Development and application of a DNA microarray-based yeast two-hybrid system
Bernhard Suter, Jean-Fred Fontaine, Reha Yildirimman, Tamás Raskó, Martin H. Schaefer, Axel Rasche, Pablo Porras, Blanca M. Vázquez-Álvarez, Jenny Russ, Kirstin Rau, Raphaele Foulle, Martina Zenkner, Kathrin Saar, Ralf Herwig, Miguel A. Andrade-Navarro, Erich E. Wanker
Nucleic Acids Res. 2013 Feb; 41(3): 1496–1507. Published online 2012 Dec 26. doi: 10.1093/nar/gks1329
PMCID:
PMC3561971
AbstractArticlePDF–8.6M
12.
ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia
Linjiang Lao, Isabelle Bourdeau, Lucia Gagliardi, Xiao He, Wei Shi, Bingbing Hao, Minjia Tan, Yan Hu, Junzheng Peng, Benoit Coulombe, David J Torpy, Hamish S Scott, Andre Lacroix, Hongyu Luo, Jiangping Wu
Nucleic Acids Res. 2022 Jun 24; 50(11): 6343–6367. Published online 2022 Jun 10. doi: 10.1093/nar/gkac483
PMCID:
PMC9226510
AbstractArticlePDF–3.7M
13.
CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement
Tina Beyer, Sylvia Bolz, Katrin Junger, Nicola Horn, Muhammad Moniruzzaman, Yasmin Wissinger, Marius Ueffing, Karsten Boldt
Mol Cell Proteomics. 2018 Jul; 17(7): 1285–1294. Published online 2018 Apr 3. doi: 10.1074/mcp.RA117.000487
PMCID:
PMC6030719
AbstractArticlePDF–2.7M
14.
Rho‐associated protein kinase‐dependent moesin phosphorylation is required for PD‐L1 stabilization in breast cancer
Fanbiao Meng, Yang Su, Bo Xu
Mol Oncol. 2020 Nov; 14(11): 2701–2712. Published online 2020 Oct 3. doi: 10.1002/1878-0261.12804
PMCID:
PMC7607174
AbstractArticlePDF–4.2M
15.
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants
Laura Strohm, Zehan Hu, Yongwon Suk, Alina Rühmkorf, Erin Sternburg, Vanessa Gattringer, Henrick Riemenschneider, Riccardo Berutti, Elisabeth Graf, Jochen H Weishaupt, Monika S Brill, Angelika B Harbauer, Dorothee Dormann, Jörn Dengjel, Dieter Edbauer, Christian Behrends
Life Sci Alliance. 2022 Nov; 5(11): e202101327. Published online 2022 Jul 1. doi: 10.26508/lsa.202101327
PMCID:
PMC9258132
AbstractArticlePDF–5.9M
16.
Ubiquilin 2 modulates ALS/FTD-linked FUS–RNA complex dynamics and stress granule formation
Elizabeth J. Alexander, Amirhossein Ghanbari Niaki, Tao Zhang, Jaya Sarkar, Yang Liu, Raja Sekhar Nirujogi, Akhilesh Pandey, Sua Myong, Jiou Wang
Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): E11485–E11494. Published online 2018 Nov 15. doi: 10.1073/pnas.1811997115
PMCID:
PMC6298105
AbstractArticlePDF–3.7M
17.
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
18.
Proteomic Analysis of the Epidermal Growth Factor Receptor (EGFR) Interactome and Post-translational Modifications Associated with Receptor Endocytosis in Response to EGF and Stress
Jiefei Tong, Paul Taylor, Michael F. Moran
Mol Cell Proteomics. 2014 Jul; 13(7): 1644–1658. Published online 2014 May 5. doi: 10.1074/mcp.M114.038596
PMCID:
PMC4083106
AbstractArticlePDF–2.6M
19.
Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma
Verónica Freire-Benéitez, Nicola Pomella, Thomas O Millner, Anaëlle A Dumas, Maria Victoria Niklison-Chirou, Eleni Maniati, Jun Wang, Vinothini Rajeeve, Pedro Cutillas, Silvia Marino
NAR Cancer. 2021 Mar; 3(1): zcab009. Published online 2021 Mar 22. doi: 10.1093/narcan/zcab009
Correction in:
NAR Cancer. 2021 Jun; 3(2): zcab020.
PMCID:
PMC8210184
AbstractArticlePDF–3.4M
20.
RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes
Shalini Rawat, Dhruba Chatterjee, Rituraj Marwaha, Gitanjali Charak, Gaurav Kumar, Shrestha Shaw, Divya Khatter, Sheetal Sharma, Cecilia de Heus, Nalan Liv, Judith Klumperman, Amit Tuli, Mahak Sharma
J Cell Biol. 2023 Jan 2; 222(1): e202108001. Published online 2022 Oct 25. doi: 10.1083/jcb.202108001
PMCID:
PMC9597352
AbstractArticlePDF–12M

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