PMC Articles for MedGen (Select 863781) - PMC

Select item 42255891.

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

Abstract Article PDF–1.3M

Select item 47473042.

Fatty Acyl-CoA Reductase 1 Deficiency

Charles N. Swisher

Pediatr Neurol Briefs. 2015 Jan; 29(1): 6. Published online 2015 Jan 1. doi: 10.15844/pedneurbriefs-29-1-5

PMCID:: PMC4747304

Abstract Article PDF–123K

Select item 101505783.

Disrupted intercellular bridges and spermatogenesis in fatty acyl-CoA reductase 1 knockout mice: A new model of ether lipid deficiency

Bo Pan, Shuo Yuan, Linda Mayernik, Yi Tian Yap, Kamiar Moin, Charles S. Chung, Krishnarao Maddipati, Stephen A. Krawetz, Zhibing Zhang, Rex A. Hess, Xuequn Chen

FASEB J. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: FASEB J. 2023 May; 37(5): e22908. doi: 10.1096/fj.202201848R

PMCID:: PMC10150578

Abstract Article PDF–1.5M

Select item 80263964.

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

Abstract Article PDF–1.0M

Select item 52910535.

The Acyl Desaturase CER17 Is Involved in Producing Wax Unsaturated Primary Alcohols and Cutin Monomers

Xianpeng Yang, Huayan Zhao, Dylan K. Kosma, Pernell Tomasi, John M. Dyer, Rongjun Li, Xiulin Liu, Zhouya Wang, Eugene P. Parsons, Matthew A. Jenks, Shiyou Lü

Plant Physiol. 2017 Feb; 173(2): 1109–1124. Published online 2017 Jan 9. doi: 10.1104/pp.16.01956

PMCID:: PMC5291053

Abstract Article PDF–3.0M

Select item 48800396.

Peroxisomes in brain development and function

Johannes Berger, Fabian Dorninger, Sonja Forss-Petter, Markus Kunze

Biochim Biophys Acta. Author manuscript; available in PMC 2016 May 25.

Published in final edited form as: Biochim Biophys Acta. 2016 May; 1863(5): 934–955. Published online 2015 Dec 11. doi: 10.1016/j.bbamcr.2015.12.005

PMCID:: PMC4880039

Abstract Article PDF–1.8M

Select item 46256067.

Enhanced artemisinin yield by expression of rol genes in Artemisia annua

Erum Dilshad, Rosa Maria Cusido, Javier Palazon, Karla Ramirez Estrada, Mercedes Bonfill, Bushra Mirza

Malar J. 2015; 14: 424. Published online 2015 Oct 29. doi: 10.1186/s12936-015-0951-5

PMCID:: PMC4625606

Abstract Article PDF–1.7M

Select item 40385688.

Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination

Tiago Ferreira da Silva, Jessica Eira, André T. Lopes, Ana R. Malheiro, Vera Sousa, Adrienne Luoma, Robin L. Avila, Ronald J.A. Wanders, Wilhelm W. Just, Daniel A. Kirschner, Mónica M. Sousa, Pedro Brites

J Clin Invest. 2014 Jun 2; 124(6): 2560–2570. Published online 2014 Apr 24. doi: 10.1172/JCI72063