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Select item 46374471.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

Case Rep Genet. 2015; 2015: 454526. Published online 2015 Oct 26. doi: 10.1155/2015/454526

PMCID:: PMC4637447

Abstract Article PDF–924K

Select item 44398952.

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Abdullah Çim, Salih Coşkun, Orhan Görükmez, Hatice Yüksel, Ünal Uluca, Erminia Di Pietro, François Plourde, Nancy Elise Braverman

J Clin Res Pediatr Endocrinol. 2015 Mar; 7(1): 69–72. Published online 2015 Mar 5. doi: 10.4274/jcrpe.1835

PMCID:: PMC4439895

Abstract Article PDF–137K

Select item 3849413.

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Alison M. Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F. Tabak, Ronald J. A. Wanders, Hans R. Waterham

Am J Hum Genet. 2002 Mar; 70(3): 612–624. Published online 2002 Jan 7. doi: 10.1086/338998

PMCID:: PMC384941

Abstract Article PDF–567K

Select item 32322244.

Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice

Pedro Brites, Ana Sofia Ferreira, Tiago Ferreira da Silva, Vera F. Sousa, Ana R. Malheiro, Marinus Duran, Hans R. Waterham, Myriam Baes, Ronald J. A. Wanders

PLoS One. 2011; 6(12): e28539. Published online 2011 Dec 6. doi: 10.1371/journal.pone.0028539

PMCID:: PMC3232224

Abstract Article PDF–3.5M

Select item 31364455.

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 3792396.

Identification of PEX7 as the Second Gene Involved in Refsum Disease

Daan M. van den Brink, Pedro Brites, Janet Haasjes, Anthony S. Wierzbicki, John Mitchell, Michelle Lambert-Hamill, Jacqueline de Belleroche, Gerbert A. Jansen, Hans R. Waterham, Ronald J. A. Wanders

Am J Hum Genet. 2003 Feb; 72(2): 471–477. Published online 2003 Jan 9. doi: 10.1086/346093

PMCID:: PMC379239

Abstract Article PDF–211K

Select item 2214577.

Expression in Escherichia coli of a staphylococcal gene for resistance to macrolide, lincosamide, and streptogramin type B antibiotics.

K Hardy, C Haefeli

J Bacteriol. 1982 Oct; 152(1): 524–526. doi: 10.1128/jb.152.1.524-526.1982

PMCID:: PMC221457

Summary Page Browse PDF–601K

Select item 32382308.

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 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

Select item 931023610.

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Wedad Fallatah, Wei Cui, Erminia Di Pietro, Grace T. Carter, Brittany Pounder, Fabian Dorninger, Christian Pifl, Ann B. Moser, Johannes Berger, Nancy E. Braverman

Front Cell Dev Biol. 2022; 10: 886316. Published online 2022 Jul 11. doi: 10.3389/fcell.2022.886316

PMCID:: PMC9310236

Abstract Article PDF–4.6M

Select item 358016411.

Transcriptional integration of mitochondrial biogenesis

Richard C. Scarpulla, Rick B. Vega, Daniel P. Kelly

Trends Endocrinol Metab. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Trends Endocrinol Metab. 2012 Sep; 23(9): 459–466. Published online 2012 Jul 18. doi: 10.1016/j.tem.2012.06.006

PMCID:: PMC3580164

Abstract Article PDF–1.0M

Select item 1142045312.

Iron supplementation and iron accumulation promote adipocyte thermogenesis through PGC1α-ATGL–mediated lipolysis

Xudong Mai, Yifan Liu, Jigang Fan, Lanling Xiao, Miaomiao Liao, Zhipeng Huang, Zijian Chen, Shaojun Huang, Rui Sun, Xiaowan Jiang, Liujing Huang, Jia Sun, Liwei Xie, Hong Chen

J Biol Chem. 2024 Sep; 300(9): 107690. Published online 2024 Aug 17. doi: 10.1016/j.jbc.2024.107690

PMCID:: PMC11420453

Abstract Article PDF–4.4M

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 410948514.

Agonism of the 5-Hydroxytryptamine 1F Receptor Promotes Mitochondrial Biogenesis and Recovery from Acute Kidney Injury

Sara M. Garrett, Ryan M. Whitaker, Craig C. Beeson, Rick G. Schnellmann

J Pharmacol Exp Ther. 2014 Aug; 350(2): 257–264. Published online 2014 Aug. doi: 10.1124/jpet.114.214700

PMCID:: PMC4109485

Abstract Article PDF–1.0M

Select item 406497015.

FAR1 and FAR2 Regulate the Expression of Genes Associated with Lipid Metabolism in the Rice Blast Fungus Magnaporthe oryzae

Mohammad Termizi bin Yusof, Michael J. Kershaw, Darren M. Soanes, Nicholas J. Talbot

PLoS One. 2014; 9(6): e99760. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0099760

PMCID:: PMC4064970

Abstract Article PDF–1.9M

Select item 406386516.

Peroxisomes Are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster

Joseph E. Faust, Arvind Manisundaram, Pavlina T. Ivanova, Stephen B. Milne, James B. Summerville, H. Alex Brown, Michael Wangler, Michael Stern, James A. McNew

PLoS One. 2014; 9(6): e100213. Published online 2014 Jun 19. doi: 10.1371/journal.pone.0100213

PMCID:: PMC4063865

Abstract Article PDF–8.8M

Select item 384447117.

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

Kevin Berendse, Merel S Ebberink, Lodewijk IJlst, Bwee Tien Poll-The, Ronald J A Wanders, Hans R Waterham

Orphanet J Rare Dis. 2013; 8: 138. Published online 2013 Sep 9. doi: 10.1186/1750-1172-8-138

PMCID:: PMC3844471

Abstract Article PDF–708K

Select item 374800618.

Mitochondria and Tumor Progression in Ulcerative Colitis

Cigdem Himmetoglu Ussakli, Anoosheh Ebaee, Jennifer Binkley, Teresa A. Brentnall, Mary J. Emond, Peter S. Rabinovitch, Rosa Ana Risques

J Natl Cancer Inst. 2013 Aug 21; 105(16): 1239–1248. Published online 2013 Jul 12. doi: 10.1093/jnci/djt167

PMCID:: PMC3748006

Abstract Article PDF–1.0M

Select item 330764219.

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