PMC Links for OMIM (Select 615843) - PMC

Select item 68711771.

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

Abstract Article PDF–1.9M

Select item 67879182.

Targeting a ceramide double bond improves insulin resistance and hepatic steatosis

Bhagirath Chaurasia, Trevor S. Tippetts, Rafael Mayoral Monibas, Jinqi Liu, Ying Li, Liping Wang, Joseph L. Wilkerson, C. Rufus Sweeney, Renato Felipe Pereira, Doris Hissako Sumida, J. Alan Maschek, James E. Cox, Vincent Kaddai, Graeme Iain Lancaster, Monowarul Mobin Siddique, Annelise Poss, Mackenzie Pearson, Santhosh Satapati, Heather Zhou, David G. McLaren, Stephen F. Previs, Ying Chen, Ying Qian, Aleksandr Petrov, Margaret Wu, Xiaolan Shen, Jun Yao, Christian N. Nunes, Andrew D. Howard, Liangsu Wang, Mark D. Erion, Jared Rutter, William L. Holland, David E. Kelley, Scott A. Summers

Science. Author manuscript; available in PMC 2020 Jul 26.

Published in final edited form as: Science. 2019 Jul 26; 365(6451): 386–392. Published online 2019 Jul 4. doi: 10.1126/science.aav3722

PMCID:: PMC6787918

Abstract Article PDF–1.6M

Select item 63911153.

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 63911094.

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 36480625.

Ablation of Dihydroceramide Desaturase 1, a Therapeutic Target for the Treatment of Metabolic Diseases, Simultaneously Stimulates Anabolic and Catabolic Signaling

Monowarul M. Siddique, Ying Li, Liping Wang, Jianhong Ching, Mainak Mal, Olga Ilkayeva, Ya Jun Wu, Boon Huat Bay, Scott A. Summers

Mol Cell Biol. 2013 Jun; 33(11): 2353–2369. doi: 10.1128/MCB.00226-13

PMCID:: PMC3648062

Abstract Article PDF–3.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity