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One gene multiple disorders: the role of ABCC6 in calcification
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List of publications |
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Pomozi V, Brampton C, Szeri F, Dedinszki D, Kozak E, van de Wetering K, Hopkins H, Martin L, Varadi A, Le Saux O: Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6-/- Mice., JOURNAL OF INVESTIGATIVE DERMATOLOGY IN PRESS: p. IN PRESS. 2016 Nov 5. pii: S0022-202X(16)32624-0. doi: 10.1016/j.jid.2016.10.035, 2017 | Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, Plomp A, Bergen AA, Elferink RP, Borst P, van de Wetering K.: ATP-Binding Cassette Subfamily C Member 6-Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation., Arterioscler Thromb Vasc Biol. ATVBAHA.114.304017., 2014 | Pomozi V, Brampton CN, Fülöp K, Chen LH, Apana AL, 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., 2014 | Pomozi V, Le Saux O, Brampton CN, 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;112(11):e148-51, 2013 | Pomozi V, Brampton CN, Fülöp K, Chen LH, Apana AL, 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. 2013 Nov 11. doi: 10.1038/jid.2013.482., 2013 | Arányi T, Bacquet C, de Boussac H, Ratajewski M, Pomozi V, 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;4:27, 2013 | Telbisz Á, Özvegy-Laczka C, Hegedűs T, Váradi A, Sarkadi B.: Effects of the lipid environment, cholesterol and bile acids on the function of the purified and reconstituted human ABCG2 protein., Biochem J. 2013 Mar 1;450(2):387-95., 2013 | Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF: Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting., J Invest Dermatol. 2013 Jun;133(6):1444-9., 2013 | Brampton C, Aherrahrou Z, Chen L-H, Martin L, Bergen AAB, Gorgels TGMF, 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 184:(1) pp. 159-170., 2014 | Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, Plomp A, Bergen AA, Elferink RP, Borst P, van de Wetering K.: ATP-Binding Cassette Subfamily C Member 6-Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation., Arterioscler Thromb Vasc Biol. ATVBAHA.114.304017., 2014 | Pomozi V, Brampton CN, Fülöp K, Chen LH, Apana AL, 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., 2014 | Gál Z, Hegedüs C, Szakács G, Váradi A, Sarkadi B, Özvegy-Laczka C.: Mutations of the central tyrosines of putative cholesterol recognition amino acid consensus (CRAC) sequences modify folding, activity, and sterol-sensing of the human ABC, Biochim Biophys Acta. 1848:477-87, 2015 | Váradi, A. Homolya, L: Two liver transporters, ABCB11 and ABCC6; Novel therapeutic approaches in the related disorders, In ABC Transporters – 40 Years on; ed. George, A.M. Springer, p.357-376, 2015 | Telbisz Á, Özvegy-Laczka C, Hegedűs T, Váradi A, Sarkadi B.: Effects of the lipid environment, cholesterol and bile acids on the function of the purified and reconstituted human ABCG2 protein., Biochem J. 2013 Mar 1;450(2):387-95., 2013 | Li Q, Aranyi T, Varadi A, Terry SF, Uitto J: Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders., JOURNAL OF INVESTIGATIVE DERMATOLOGY 136:(3) pp. 550-556., 2016 | Rashdan NA, Rutsch F, Kempf H, Varadi A, Leftheriotis G, MacRae VE: New perspectives on rare connective tissue calcifying diseases., CURRENT OPINION IN PHARMACOLOGY 28: pp. 14-23., 2016 | Brampton C, Aherrahrou Z, Chen L-H, Martin L, Bergen AAB, Gorgels TGMF, 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 184:(1) pp. 159-170., 2014 | Pomozi V, Le Saux O, Brampton CN, 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;112(11):e148-51, 2013 | Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF: Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting, J Invest Dermatol. 2013 Jun;133(6):1444-9., 2013 |
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