PMC Links for Gene (Select 58970) - PMC

Select item 63911151.

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

Abstract Article PDF–9.0M

Select item 34394842.

Ablation of Dihydroceramide Desaturase Confers Resistance to Etoposide-Induced Apoptosis In Vitro

Monowarul M. Siddique, Benjamin T. Bikman, Liping Wang, Li Ying, Erin Reinhardt, Guanghou Shui, Markus R. Wenk, Scott A. Summers

PLoS One. 2012; 7(9): e44042. Published online 2012 Sep 11. doi: 10.1371/journal.pone.0044042

PMCID:: PMC3439484

Abstract Article PDF–760K

Select item 63911093.

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

Abstract Article PDF–6.7M

Select item 35227774.

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