PMC Articles for MedGen (Select 900333) - PMC

Select item 82589491.

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 48800482.

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 48800393.

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 42255894.

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 40385685.

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 33076426.

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J. A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita

J Lipid Res. 2012 Apr; 53(4): 653–663. doi: 10.1194/jlr.M021204

PMCID:: PMC3307642

Abstract Article PDF–1.5M

Select item 31364457.

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

Patricia K. Dranchak, Erminia Di Pietro, Ann Snowden, Nathan Oesch, Nancy E. Braverman, Steven J. Steinberg, Joseph G. Hacia

J Cell Biochem. Author manuscript; available in PMC 2011 Jul 14.

Published in final edited form as: J Cell Biochem. 2011 May; 112(5): 1250–1258. doi: 10.1002/jcb.22979

PMCID:: PMC3136445

Abstract Article PDF–1.6M

Select item 30819568.

Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice

R. Liegel, B. Chang, R. Dubielzig, D.J. Sidjanin

Mol Genet Metab. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Mol Genet Metab. 2011 May; 103(1): 51–59. Published online 2011 Feb 25. doi: 10.1016/j.ymgme.2011.02.002

PMCID:: PMC3081956

Abstract Article PDF–2.1M

Select item 28390399.

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Nancy Braverman, Rui Zhang, Li Chen, Graeme Nimmo, Sarah Scheper, Tammy Tran, Rupsa Chaudhury, Ann Moser, Steven Steinberg

Mol Genet Metab. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Mol Genet Metab. 2010 Apr; 99(4): 408–416. Published online 2009 Dec 11. doi: 10.1016/j.ymgme.2009.12.005

PMCID:: PMC2839039

Abstract Article PDF–2.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity