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Items: 1 to 20 of 38

1.
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism
Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera
J Lipid Res. 2024 Mar; 65(3): 100517. Published online 2024 Feb 10. doi: 10.1016/j.jlr.2024.100517
PMCID:
PMC10940770
ArticlePDF–3.6M
2.
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann
J Lipid Res. 2023 Dec; 64(12): 100464. Published online 2023 Oct 27. doi: 10.1016/j.jlr.2023.100464
PMCID:
PMC10696257
ArticlePDF–2.1M
3.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol
J Clin Invest. 2023 May 15; 133(10): e162957. Published online 2023 May 15. doi: 10.1172/JCI162957
PMCID:
PMC10178845
ArticlePDF–8.5M
4.
Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism
Ryan W. Linzer, Danielle L. Guida, Jonathan Aminov, Justin M. Snider, Gabrielle Khalife, A. Burak Buyukbayraktar, Charbel Alhaddad, Andrew E. Resnick, Pule Wang, Chun-Hao Pan, Janet J. Allopenna, Christopher J. Clarke
FASEB J. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: FASEB J. 2022 Oct; 36(10): e22558. doi: 10.1096/fj.202200748R
PMCID:
PMC9597949
ArticlePDF–1.8M
5.
N-(4-Hydroxyphenyl) Retinamide Suppresses SARS-CoV-2 Spike Protein-Mediated Cell-Cell Fusion by a Dihydroceramide Δ4-Desaturase 1-Independent Mechanism
Yasuhiro Hayashi, Kiyoto Tsuchiya, Mizuki Yamamoto, Yoko Nemoto-Sasaki, Kazunari Tanigawa, Kotaro Hama, Yusuke Ueda, Takashi Tanikawa, Jin Gohda, Kenji Maeda, Jun-ichiro Inoue, Atsushi Yamashita
J Virol. 2021 Sep; 95(17): e00807-21. Prepublished online 2021 Jun 9. Published online 2021 Aug 10. doi: 10.1128/JVI.00807-21
PMCID:
PMC8354230
ArticlePDF–6.5M
6.
DEGS1 variant causes neurological disorder
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, Izolda Mileva, Yuval Yogev, Raed Khoury, Osnat Konen, Yael Barhum, Alex Zvulunov, Cungui Mao, Ohad S. Birk
Eur J Hum Genet. 2019 Nov; 27(11): 1668–1676. Published online 2019 Jun 11. doi: 10.1038/s41431-019-0444-z
PMCID:
PMC6871177
ArticlePDF–1.9M
7.
Sphingolipid Modulation Activates Proteostasis Programs to Govern Human Hematopoietic Stem Cell Self-Renewal
Stephanie Z. Xie, Laura Garcia-Prat, Veronique Voisin, Robin Ferrari, Olga I. Gan, Elvin Wagenblast, Kerstin B. Kaufmann, Andy G.X. Zeng, Shin-ichiro Takayanagi, Ishita Patel, Esther K. Lee, Joseph Jargstorf, Gareth Holmes, Guy Romm, Kristele Pan, Michelle Shoong, Aditi Vedi, Chiara Luberto, Mark D. Minden, Gary D. Bader, Elisa Laurenti, John E. Dick
Cell Stem Cell. 2019 Nov 7; 25(5): 639–653.e7. doi: 10.1016/j.stem.2019.09.008
PMCID:
PMC6838675
Article
8.
Inhibition of dihydroceramide desaturase activity by the sphingosine kinase inhibitor SKI II
Francesca Cingolani, Mireia Casasampere, Pol Sanllehí, Josefina Casas, Jordi Bujons, Gemma Fabrias
J Lipid Res. 2014 Aug; 55(8): 1711–1720. doi: 10.1194/jlr.M049759
PMCID:
PMC4109765
ArticlePDF–911K
9.
Dihydroceramide Desaturase Knockdown Impacts Sphingolipids and Apoptosis after Photodamage in Human Head and Neck Squamous Carcinoma Cells
PAUL BREEN, NICHOLAS JOSEPH, KYLE THOMPSON, JACQUELINE M. KRAVEKA, TATYANA I. GUDZ, LI LI, MEHRDAD RAHMANIYAN, JACEK BIELAWSKI, JASON S. PIERCE, ERIC VAN BUREN, GAURAV BHATTI, DUSKA SEPAROVIC
Anticancer Res. Author manuscript; available in PMC 2014 Jan 29.
Published in final edited form as: Anticancer Res. 2013 Jan; 33(1): 77–84.
PMCID:
PMC3905466
ArticlePDF–445K
10.
Silencing of enzymes involved in ceramide biosynthesis causes distinct global alterations of lipid homeostasis and gene expression
Wanida Ruangsiriluk, Shaun E. Grosskurth, Daniel Ziemek, Max Kuhn, Shelley G. des Etages, Omar L. Francone
J Lipid Res. 2012 Aug; 53(8): 1459–1471. doi: 10.1194/jlr.M020941
PMCID:
PMC3540863
ArticlePDF–891K
11.
Cell density-dependent reduction of dihydroceramide desaturase activity in neuroblastoma cells
Stefka D. Spassieva, Mehrdad Rahmaniyan, Jacek Bielawski, Christopher J. Clarke, Jacqueline M. Kraveka, Lina M. Obeid
J Lipid Res. 2012 May; 53(5): 918–928. doi: 10.1194/jlr.M019075
PMCID:
PMC3329391
ArticlePDF–799K
12.
Dihydroceramide Desaturase Activity is Modulated by Oxidative Stress
Jolanta Idkowiak-Baldys, Aintzane Apraiz, Li Li, Mehrdad Rahmaniyan, Christopher J. Clarke, Jacqueline M. Kraveka, Aintzane Asumendi, Yusuf A. Hannun
Biochem J. Author manuscript; available in PMC 2011 May 3.
Published in final edited form as: Biochem J. 2010 Mar 29; 427(2): 265–274. Published online 2010 Mar 29. doi: 10.1042/BJ20091589
PMCID:
PMC3086801
ArticlePDF–883K
13.
Involvement Of The Dihydroceramide Desaturase In Cell Cycle Progression In Human Neuroblastoma Cells
Jacqueline M. Kraveka, Li Li, Zdzislaw M. Szulc, Jacek Bielawski, Besim Ogretmen, Yusuf A. Hannun, Lina M. Obeid, Alicja Bielawska
J Biol Chem. Author manuscript; available in PMC 2007 Nov 21.
Published in final edited form as: J Biol Chem. 2007 Jun 8; 282(23): 16718–16728. Published online 2007 Feb 5. doi: 10.1074/jbc.M700647200
PMCID:
PMC2084375
ArticlePDF–703K
14.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans
Gergely Karsai, Florian Kraft, Natja Haag, G. Christoph Korenke, Benjamin Hänisch, Alaa Othman, Saranya Suriyanarayanan, Regula Steiner, Cordula Knopp, Michael Mull, Markus Bergmann, J. Michael Schröder, Joachim Weis, Miriam Elbracht, Matthias Begemann, Thorsten Hornemann, Ingo Kurth
J Clin Invest. 2019 Mar 1; 129(3): 1229–1239. Published online 2019 Feb 11. doi: 10.1172/JCI124159
PMCID:
PMC6391115
ArticlePDF–9.0M
15.
The sphingosine kinase 2 inhibitor ABC294640 reduces the growth of prostate cancer cells and results in accumulation of dihydroceramides in vitro and in vivo
Heather Venant, Mehrdad Rahmaniyan, E. Ellen Jones, Ping Lu, Michael B. Lilly, Elizabeth Garrett-Mayer, Richard R. Drake, Jacqueline M. Kraveka, Charles D. Smith, Christina Voelkel-Johnson
Mol Cancer Ther. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Mol Cancer Ther. 2015 Dec; 14(12): 2744–2752. Published online 2015 Oct 22. doi: 10.1158/1535-7163.MCT-15-0279
PMCID:
PMC4674301
ArticlePDF–1.0M
16.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Devesh C. Pant, Imen Dorboz, Agatha Schluter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera-Albesa, Maria Eugenia Yoldi, Carlos Casasnovas, Mary J. Willis, Montserrat Ruiz, Dorothée Ville, Gaetan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N. James, Damir Musaev, Maha S. Zaki, Marc C. Patterson, Brendan C. Lanpher, Eric W. Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Lygia de M. Sobreira, Julie S. Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G. Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug-Tanguy, Aurora Pujol
J Clin Invest. 2019 Mar 1; 129(3): 1240–1256. Published online 2019 Feb 11. doi: 10.1172/JCI123959
PMCID:
PMC6391109
ArticlePDF–6.7M
17.
Identification of DES1 as a Vitamin A Isomerase in Müller Glial Cells of the Retina
Joanna J. Kaylor, Quan Yuan, Jeremy Cook, Shanta Sarfare, Jacob Makshanoff, Anh Miu, Anita Kim, Paul Kim, Samer Habib, C. Nathaniel Roybal, Tongzhou Xu, Steven Nusinowitz, Gabriel H. Travis
Nat Chem Biol. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Nat Chem Biol. 2013 Jan; 9(1): 30–36. Published online 2012 Nov 11. doi: 10.1038/nchembio.1114
PMCID:
PMC3522777
ArticlePDF–1.4M
18.
Dihydroceramide-based Response to Hypoxia
Cecilia M. Devlin, Tim Lahm, Walter C. Hubbard, Mary Van Demark, Kevin C. Wang, Xue Wu, Alicja Bielawska, Lina M. Obeid, Mircea Ivan, Irina Petrache
J Biol Chem. 2011 Nov 4; 286(44): 38069–38078. Published online 2011 Sep 13. doi: 10.1074/jbc.M111.297994
Correction in:
J Biol Chem. 2012 May 18; 287(21): 17425.
PMCID:
PMC3207482
ArticlePDF–1.9M
19.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen, Zhen-Yuan Lin, Hanish Anand, Anne-Claude Gingras, Julien Prudent, Eric A Shoubridge
Life Sci Alliance. 2024 Jan; 7(1): e202302335. Published online 2023 Nov 6. doi: 10.26508/lsa.202302335
PMCID:
PMC10627786
ArticlePDF–5.2M
20.
Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins
Fabian Hosp, Hannes Vossfeldt, Matthias Heinig, Djordje Vasiljevic, Anup Arumughan, Emanuel Wyler, Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, Markus Landthaler, Norbert Hubner, Erich E. Wanker, Lars Lannfelt, Martin Ingelsson, Maciej Lalowski, Aaron Voigt, Matthias Selbach
Cell Rep. Author manuscript; available in PMC 2022 Apr 18.
Published in final edited form as: Cell Rep. 2015 May 19; 11(7): 1134–1146. Published online 2015 May 7. doi: 10.1016/j.celrep.2015.04.030
PMCID:
PMC9014711
ArticlePDF–2.2M

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