Olivier Le Saux, PhD


Olivier Le Saux

Assistant Professor
Department of Cell and Molecular Biology
University of Hawaii School of Medicine, Honolulu, HI

Olivier Le Saux, PhD, obtained a Bachelor of Science in biochemistry and microbiology in 1989 followed by a Master of Science in biotechnology engineering in 1992 at the Université d´Aix-Marseille I, in Southern France. He graduated with a PhD in cell, structural biology and microbiology from the same university in 1997. The same year he joined the Pacific Biomedical Research Center at the University of Hawaii as a post-doctoral fellow. During this time he worked, with the support of Sharon Terry and PXE International, on identifying the gene causing PXE (ABCC6). In 2004, he was recruited as Assistant Professor at the University of Hawaii School of Medicine in the Department of Cell and Molecular Biology where he continues to develop his work on PXE and the role of ABCC6 in abnormal mineralization.

Areas of Interest

Genetics of PXE, ABCC6 Protein, Assay Development, PXE Animal Models, PXE and the Metabolism, Epidemiology of PXE



Leftheriotis G, Kauffenstein G, Hamel JF, Abraham P, Le Saux O, Willoteaux S, Henrion D, Martin L. The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum. PLoS One. 2014 May 6;9(5):e96003. Free article in PubMed. PMID: 24800819 

Kauffenstein G, Pizard A, Le Corre Y, Vessières E, Grimaud L, Toutain B, Labat C, Mauras Y, Gorgels TG, Bergen AA, Le Saux O, Lacolley P, Lefthériotis G, Henrion D, Martin L. Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum. Arterioscler Thromb Vasc Biol. 2014 May;34(5):1045-56. PMID: 24675664 

Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum. Orphanet J Rare Dis. 2014 Apr 29;9:66. Free article in PubMed. PMID: 24775865

Pomozi V, Brampton C, Fülöp K, Chen LH, Apana A, Li Q, Uitto J, Le Saux O, Váradi A. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo: pharmacological correction of the mislocalized proteins. J Invest Dermatol. 2014 Apr;134(4):946-53. PMID: 24352041

Brampton C, Aherrahrou Z, Chen LH, Martin L, Bergen AA, Gorgels TG, Erdfdi J, Schunkert H, Szabó Z, Váradi A, Le Saux O. The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury. Am J Pathol. 2014 Jan;184(1):159-70. PMID: 24479134

Guérin-Moreau M, Leftheriotis G, Le Corre Y, Etienne M, Amode R, Hamel JF, Croué A, Le Saux O, Machet L, Martin L. High frequency (20-50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions. Br J Dermatol. 2013 Dec;169(6):1233-9. PMID: 23909384

Prunier F, Terrien G, Le Corre Y, Apana AL, Bière L, Kauffenstein G, Furber A, Bergen AA, Gorgels TG, Le Saux O, Leftheriotis G, Martin L. Pseudoxanthoma elasticum: Cardiac findings in patients and Abcc6-deficient mouse model. PLoS One. 2013 Jul 23;8(7):e68700. Free article in PubMed. PMID: 23935882

Pomozi V, Le Saux O, Brampton C, Apana A, Iliás A, Szeri F, Martin L, Monostory K, Paku S, Sarkadi B, Szakács G, Váradi A. ABCC6 is a basolateral plasma membrane protein. Circ Res. 2013 May 24;112(11):e148-51. Free article in PubMed. PMID: 23625951

Arányi T, Bacquet C, de Boussac H, Ratajewski M, Pomozi V, Fülöp K, Brampton CN, Pulaski L, Le Saux O, Váradi A. Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. Front Genet. 2013 Mar 11;4:27. Free article in PubMed. PMID: 23483032

Lefthériotis G, Omarjee L, Le Saux O, Henrion D, Abraham P, Prunier F, Willoteaux S, Martin L. The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification. Front Genet. 2013 Feb 12;4:4. Free article in PubMed. PMID: 23408347

Le Saux O, Martin L, Aherrahrou Z, Lefthériotis G, Váradi A, Brampton CN. The molecular and physiological roles of ABCC6: more than meets the eye. Front Genet. 2012 Dec 12;3:289. Article here. PMID: 23248644

Le Corre Y, Le Saux O, Froeliger F, Libouban H, Kauffenstein G, Willoteaux S, Leftheriotis G, Martin L. Quantification of the calcification phenotype of Abcc6-deficient mice with microcomputed tomography. Am J Pathol. 2012 Jun;180(6):2208-13. PMID: 22469843

Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau Ph, Prunier F, Martin L. Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. J Vasc Surg. 2011 Nov;54(5):1390-4. PMID: 21723076

Le Saux O, Fülöp K, Yamaguchi Y, Iliás A, Szabó Z, Brampton CN, Pomozi V, Huszár K, Arányi T, Váradi A. Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver. PLoS One. 2011 Sep;6(9):e24738. Free article in PubMed. PMID: 21935449

Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen Lh, Thakore M, De Paepe A, Pomozi V, Szabó Pt, Martin L, Váradi A, Le Saux O. Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle. 2011 Jun 1;10(11):1810-20. Free article in PubMed. PMID: 21597330

Lefthériotis G, Vanakker O, Le Saux O, Martin L. Reply to the article of C. Markello et al. entitled Vascular pathology of medial arterial calcifications in Nt5e deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011 Jun;103(2):199-200. PMID: 21497121

Martin L, Douet V, VanWart CM, Heller MB, Le Saux O. A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Am J Pathol. 2011 Feb;178(2):774-83. Free article in PubMed. PMID: 21281810

Costrop LM, Vanakker OM, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J Hum Genet. 2010 Feb;55(2):112-7. PMID: 20075945

Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE. Consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008 Mar;144(3):301-6. PMID: 18347285

Martin L, S. Pissard, P. Blanc, N. Chassaing, E. Legac, S. Briault, M. Le Bert, O. Le Saux. Augmentation de l’hémoglobine A2 au cours du pseudoxanthome élastique. Ann Dermatol Venereol. 2006 Aug-Sep;133(8-9 Pt 1):645-51. PMID: 17053732

Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A. Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J Invest Dermatol. 2006 Jul;126(7):1497-505. Free article at Journal Website. PMID: 16543900

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol. 2003 Sep;122(5):852-4. PMID: 12930400

Beck K, Hayashi K, Nishiguchi B, Le Saux O, Hayashi M, Boyd CD. The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter. J Histochem Cytochem. 2003 Jul;51(7):887-902. Free article at Journal Website. PMID: 12810839

Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002 Oct;111(4-5):331-8. PMID: 12384774

Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem. 2002 May 10;277(19):16860-7. Free article at Journal Website. PMID: 11880368

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Free article in PubMed. PMID: 11536079

Martin L, Le Saux O. News in pseudoxanthoma elasticum. Ann Dermatol Venereol. 2001 Sep;128(8-9):938-42. PMID: 11590352

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):223-7. PMID: 10835642

Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, Le Saux O, Boyd CD, Ronchetti IP. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol. 1999 Dec;12(12):1112-23. PMID: 10619263

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics. 1999 Nov 15;62(1):1-10. PMID: 10585762