Olivier Le Saux
Olivier Le Saux
Professor of Cell and Molecular Biology
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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
O Le Saux, Z Urban, C Tschuch, K Csiszar, B Bacchelli, D Quaglino, ...
Nature genetics 25 (2), 223-227, 2000
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)
A Iliás, Z Urbán, TL Seidl, O Le Saux, E Sinkó, CD Boyd, B Sarkadi, ...
Journal of Biological Chemistry 277 (19), 16860-16867, 2002
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
O Le Saux, K Beck, C Sachsinger, C Silvestri, C Treiber, HHH Göring, ...
The American Journal of Human Genetics 69 (4), 749-764, 2001
The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter
K Beck, K Hayashi, B Nishiguchi, OL Saux, M Hayashi, CD Boyd
Journal of Histochemistry & Cytochemistry 51 (7), 887-902, 2003
Oral administration of pyrophosphate inhibits connective tissue calcification
D Dedinszki, F Szeri, E Kozák, V Pomozi, N Tőkési, TR Mezei, K Merczel, ...
EMBO molecular medicine 9 (11), 1463-1470, 2017
The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification
G Lefthériotis, L Omarjee, OL Saux, D Henrion, P Abraham, F Prunier, ...
Frontiers in genetics 4, 4, 2013
Acquired pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients
N Hamlin, K Beck, B Bacchelli, P Cianciulli, I Pasquali‐Ronchetti, ...
British journal of haematology 122 (5), 852-854, 2003
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro
O Le Saux, S Bunda, CM VanWart, V Douet, L Got, L Martin, A Hinek
Journal of Investigative Dermatology 126 (7), 1497-1505, 2006
DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter
V Douet, MB Heller, O Le Saux
Biochemical and biophysical research communications 354 (1), 66-71, 2007
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver
O Le Saux, K Fülöp, Y Yamaguchi, A Iliás, Z Szabó, CN Brampton, ...
PloS one 6 (9), e24738, 2011
Pseudoxanthoma elasticum maps to an 820-kb region of the p13. 1 region of chromosome 16
O Le Saux, Z Urban, HHH Göring, K Csiszar, FM Pope, A Richards, ...
Genomics 62 (1), 1-10, 1999
The molecular and physiological roles of ABCC6: more than meets the eye
O Le Saux, L Martin, Z Aherrahrou, G Leftheriotis, A Váradi, CN Brampton
Frontiers in genetics 3, 289, 2012
The role of caveolin-1 in pulmonary matrix remodeling and mechanical properties
O Le Saux, K Teeters, S Miyasato, J Choi, G Nakamatsu, JA Richardson, ...
American Journal of Physiology-Lung Cellular and Molecular Physiology 295 (6 …, 2008
Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).
B Bacchelli, D Quaglino, D Gheduzzi, F Taparelli, F Boraldi, B Trolli, ...
Modern pathology: an official journal of the United States and Canadian …, 1999
Pyrophosphate supplementation prevents chronic and acute calcification in ABCC6-deficient mice
V Pomozi, C Brampton, K van de Wetering, J Zoll, B Calio, K Pham, ...
The American journal of pathology 187 (6), 1258-1272, 2017
Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum
C Brampton, Y Yamaguchi, O Vanakker, L Van Laer, LH Chen, M Thakore, ...
Cell Cycle 10 (11), 1810-1820, 2011
ABCC6 is a basolateral plasma membrane protein
V Pomozi, O Le Saux, C Brampton, A Apana, A Iliás, F Szeri, L Martin, ...
Circulation research 112 (11), e148-e151, 2013
Analysis of pseudoxanthoma elasticum–causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins
V Pomozi, C Brampton, K Fülöp, LH Chen, A Apana, Q Li, J Uitto, ...
Journal of Investigative Dermatology 134 (4), 946-953, 2014
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE
L Martin, F Maître, P Bonicel, P Daudon, C Verny, D Bonneau, O Le Saux, ...
Archives of dermatology 144 (3), 301-306, 2008
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
O Le Saux, K Beck, C Sachsinger, C Treiber, HH Göring, K Curry, ...
Human genetics 111, 331-338, 2002
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