PMC Articles for MedGen (Select 341734) - PMC

Select item 48800481.

Impaired neurotransmission in ether lipid-deficient nerve terminals

Alexander Brodde, Andre Teigler, Britta Brugger, Wolf D. Lehmann, Felix Wieland, Johannes Berger, Wilhelm W. Just

Hum Mol Genet. Author manuscript; available in PMC 2016 May 25.

Published in final edited form as: Hum Mol Genet. 2012 Jun 15; 21(12): 2713–2724. Published online 2012 Mar 8. doi: 10.1093/hmg/dds097

PMCID:: PMC4880048

Abstract Article PDF–2.2M

Select item 45082302.

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload

Christine E. McLaren, Mary J. Emond, V. Nathan Subramaniam, Pradyumna D. Phatak, James C. Barton, Paul C. Adams, Justin B. Goh, Cameron J. McDonald, Lawrie W. Powell, Lyle C. Gurrin, Katrina J. Allen, Deborah A. Nickerson, Tin Louie, Grant A. Ramm, Gregory J. Anderson, Gordon D. McLaren

Hepatology. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: Hepatology. 2015 Aug; 62(2): 429–439. Published online 2015 Mar 18. doi: 10.1002/hep.27711

PMCID:: PMC4508230

Abstract Article PDF–1.0M

Select item 32382303.

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor

Paul L Wood, M Amin Khan, Tara Smith, Greg Ehrmantraut, Wei Jin, Wei Cui, Nancy E Braverman, Dayan B Goodenowe

Lipids Health Dis. 2011; 10: 182. Published online 2011 Oct 18. doi: 10.1186/1476-511X-10-182

PMCID:: PMC3238230

Abstract Article PDF–429K

Select item 102047754.

Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies

Gabriel E. Bertolesi, Maxwell F. J. Chilije, Victoria Li, Chase C. Thompson, Arturo López-Villalobos, Carrie L. Hehr, Karen Atkinson-Leadbeater, Vanina Zaremberg, Sarah McFarlane

Invest Ophthalmol Vis Sci. 2023 May; 64(5): 17. Published online 2023 May 19. doi: 10.1167/iovs.64.5.17

PMCID:: PMC10204775

Abstract Article PDF–21M

Select item 61943715.

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD)

Aakash Pandita, Astha Panghal, Girish Gupta, Vijay Singh

BMJ Case Rep. 2018; 2018: bcr2017223373. Published online 2018 Oct 12. doi: 10.1136/bcr-2017-223373

PMCID:: PMC6194371

Abstract Article PDF–535K

Select item 56082516.

Drosophila Courtship Conditioning As a Measure of Learning and Memory

Tom S. Koemans, Cornelia Oppitz, Rogier A. T. Donders, Hans van Bokhoven, Annette Schenck, Krystyna Keleman, Jamie M. Kramer

J Vis Exp. 2017; (124): 55808. Published online 2017 Jun 5. doi: 10.3791/55808

PMCID:: PMC5608251

Abstract Article PDF–765K

Select item 33076547.

Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains

Kornél Nagy, Viral Vishnuprasad Brahmbhatt, Olivier Berdeaux, Lionel Bretillon, Frédéric Destaillats, Niyazi Acar

J Lipid Res. 2012 Apr; 53(4): 776–783. doi: 10.1194/jlr.D022962

PMCID:: PMC3307654

Abstract Article PDF–607K

Select item 43316748.

Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

Fabian Dorninger, Alexander Brodde, Nancy E. Braverman, Ann B. Moser, Wilhelm W. Just, Sonja Forss-Petter, Britta Brügger, Johannes Berger

Biochim Biophys Acta. 2015 Feb; 1851(2): 117–128. doi: 10.1016/j.bbalip.2014.11.005

PMCID:: PMC4331674

Abstract Article

Select item 40385689.

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

PMCID:: PMC4038568

Abstract Article PDF–4.2M

Select item 840422710.

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti

Mol Genet Genomic Med. 2021 Aug; 9(8): e1733. Published online 2021 Jun 10. doi: 10.1002/mgg3.1733

PMCID:: PMC8404227

Abstract Article PDF–509K

Select item 825894911.

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone

Orphanet J Rare Dis. 2021; 16: 300. Published online 2021 Jul 6. doi: 10.1186/s13023-021-01889-z

PMCID:: PMC8258949

Abstract Article PDF–1.5M

Select item 514628212.

Recombinant human dihydroxyacetonephosphate acyl-transferase characterization as an integral monotopic membrane protein

Valentina Piano, Simone Nenci, Francesca Magnani, Alessandro Aliverti, Andrea Mattevi

Biochem Biophys Res Commun. 2016 Dec 2; 481(1-2): 51–58. doi: 10.1016/j.bbrc.2016.11.019

PMCID:: PMC5146282

Abstract Article

Select item 422558913.

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 121947814.

Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol.

N Nagan, A K Hajra, L K Larkins, P Lazarow, P E Purdue, W B Rizzo, R A Zoeller

Biochem J. 1998 May 15; 332(Pt 1): 273–279. doi: 10.1042/bj3320273

PMCID:: PMC1219478

Summary PDF–333K

Select item 44261515.

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

S Brul, A Westerveld, A Strijland, R J Wanders, A W Schram, H S Heymans, R B Schutgens, H van den Bosch, J M Tager

J Clin Invest. 1988 Jun; 81(6): 1710–1715. doi: 10.1172/JCI113510

PMCID:: PMC442615

Summary Page Browse PDF–1.0M

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