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Select item 108164441.

The 75–99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation

Jany Dandurand, Magnus Monné, Valérie Samouillan, Martina Rosa, Alessandro Laurita, Alessandro Pistone, Donatella Bisaccia, Ilenia Matera, Faustino Bisaccia, Angela Ostuni

Int J Mol Sci. 2024 Jan; 25(2): 1135. Published online 2024 Jan 17. doi: 10.3390/ijms25021135

PMCID:: PMC10816444

Abstract Article PDF–14M

Select item 97721372.

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi

Hum Mutat. 2022 Dec; 43(12): 1872–1881. Published online 2022 Nov 15. doi: 10.1002/humu.24498

PMCID:: PMC9772137

Abstract Article PDF–1.5M

Select item 97632313.

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease

Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, Masato Kanazawa, Mitsuyasu Kanai, Yoko Shibata, Reiko Saika, Tadashi Miyatake, Hitoshi Aizawa, Takeshi Ikeuchi, Hidekazu Tomimoto, Ikuko Mizuta, Toshiki Mizuno, Tomohiko Ishihara, Osamu Onodera

J Neurol Neurosurg Psychiatry. 2023 Jan; 94(1): 74–81. Published online 2022 Oct 19. doi: 10.1136/jnnp-2022-329917

PMCID:: PMC9763231

Abstract Article PDF–839K

Select item 97410044.

CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease

Yuan Liu, Yimin Huang, Xincheng Zhang, Xiaopeng Ma, Xuejun He, Chao Gan, Xin Zou, Sheng Wang, Kai Shu, Ting Lei, Huaqiu Zhang

Cells. 2022 Dec; 11(23): 3792. Published online 2022 Nov 26. doi: 10.3390/cells11233792

PMCID:: PMC9741004

Abstract Article PDF–4.3M

Select item 94091925.

Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis

Ricarda Plümers, Michel R. Osterhage, Christopher Lindenkamp, Cornelius Knabbe, Doris Hendig

Int J Mol Sci. 2022 Aug; 23(16): 9218. Published online 2022 Aug 16. doi: 10.3390/ijms23169218

PMCID:: PMC9409192

Abstract Article PDF–2.3M

Select item 91902336.

Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier

Raymond K. Hau, Robert R. Klein, Stephen H. Wright, Nathan J. Cherrington

Drug Metab Dispos. 2022 Jun; 50(6): 770–780. Published online 2022 Jun. doi: 10.1124/dmd.121.000748

PMCID:: PMC9190233

Abstract Article PDF–2.8M

Select item 89575067.

Functional Assessment of Missense Variants in the ABCC6 gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder

Luke Kowal, Jianhe Huang, Hongbin Luo, Jagmohan Singh, Adam E. Snook, Jouni Uitto, Qiaoli Li

J Invest Dermatol. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: J Invest Dermatol. 2022 Apr; 142(4): 1085–1093. Published online 2021 Sep 29. doi: 10.1016/j.jid.2021.08.435

PMCID:: PMC8957506

Abstract Article PDF–1.1M

Select item 85955328.

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Carlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, Ulrike Botschen, Yvonne Nitschke, M Zulf Mughal, Genevieve Baujat, Dirk Schnabel, Eric Yuen, William A Gahl, Rachel I Gafni, Qing Liu, Pedro Huertas, Gus Khursigara, Frank Rutsch

J Bone Miner Res. 2021 Nov; 36(11): 2193–2202. Published online 2021 Aug 16. doi: 10.1002/jbmr.4418

PMCID:: PMC8595532

Abstract Article PDF–1.1M

Select item 84618149.

Increased endothelial sodium channel activity by extracellular vesicles in human aortic endothelial cells: putative role of MLP1 and bioactive lipids

Mohammad-Zaman Nouri, Ling Yu, Lauren P. Liu, Kevin M. Chacko, Nancy D. Denslow, John F. LaDisa Jr., Abdel A. Alli

Am J Physiol Cell Physiol. 2021 Sep 1; 321(3): C535–C548. Published online 2021 Jul 21. doi: 10.1152/ajpcell.00092.2020

PMCID:: PMC8461814

Abstract Article

Select item 800051510.

Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance

Faustino Bisaccia, Prashant Koshal, Vittorio Abruzzese, Maria Antonietta Castiglione Morelli, Angela Ostuni

Int J Mol Sci. 2021 Mar; 22(6): 2858. Published online 2021 Mar 11. doi: 10.3390/ijms22062858

PMCID:: PMC8000515

Abstract Article PDF–3.2M

Select item 798764311.

Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology

Flora Szeri, Fatemeh Niaziorimi, Sylvia Donnelly, Joseph Orndorff, Koen van de Wetering

FEBS Lett. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: FEBS Lett. 2021 Mar; 595(6): 799–810. Published online 2020 Nov 5. doi: 10.1002/1873-3468.13957

PMCID:: PMC7987643

Abstract Article PDF–1.2M

Select item 788725212.

ABCC6 deficiency promotes dyslipidemia and atherosclerosis

Christopher Brampton, Viola Pomozi, Li-Hsieh Chen, Ailea Apana, Sara McCurdy, Janna Zoll, William A. Boisvert, Gilles Lambert, Daniel Henrion, Simon Blanchard, Sheree Kuo, Georges Leftheriotis, Ludovic Martin, Olivier Le Saux

Sci Rep. 2021; 11: 3881. Published online 2021 Feb 16. doi: 10.1038/s41598-021-82966-y

PMCID:: PMC7887252

Abstract Article PDF–4.0M

Select item 734978613.

Inhibition of ABCC6 Transporter Modifies Cytoskeleton and Reduces Motility of HepG2 Cells via Purinergic Pathway

Angela Ostuni, Monica Carmosino, Rocchina Miglionico, Vittorio Abruzzese, Fabio Martinelli, Daniela Russo, Ilaria Laurenzana, Agata Petillo, Faustino Bisaccia

Cells. 2020 Jun; 9(6): 1410. Published online 2020 Jun 5. doi: 10.3390/cells9061410

PMCID:: PMC7349786

Abstract Article PDF–8.3M

Select item 674331714.

ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report

Robert S. Jansen, Suzanne Duijst, Sunny Mahakena, Daniela Sommer, Flóra Szeri, András Váradi, Astrid Plomp, Arthur A. Bergen, Ronald PJ. Oude Elferink, Piet Borst, Wetering Koen van de

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2019 Sep 13.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2014 Sep; 34(9): 1985–1989. Published online 2014 Jun 26. doi: 10.1161/ATVBAHA.114.304017

PMCID:: PMC6743317

Abstract Article PDF–553K

Select item 662654315.

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum

Gilles Kauffenstein, Gennady G. Yegutkin, Salim Khiati, Viola Pomozi, Olivier Le Saux, Georges Leftheriotis, Guy Lenaers, Daniel Henrion, Ludovic Martin

J Invest Dermatol. Author manuscript; available in PMC 2019 Jul 13.

Published in final edited form as: J Invest Dermatol. 2018 Aug; 138(8): 1862–1870. Published online 2018 Mar 6. doi: 10.1016/j.jid.2018.02.023

PMCID:: PMC6626543

Abstract Article PDF–1.3M

Select item 660091516.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 658119417.

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

Eva Y.G. De Vilder, Stefanie Cardoen, Mohammad J. Hosen, Olivier Le Saux, Julie De Zaeytijd, Bart P. Leroy, Jacques De Reuck, Paul J. Coucke, Anne De Paepe, Dimitri Hemelsoet, Olivier M. Vanakker

Brain Pathol. 2018 Nov; 28(6): 822–831. Published online 2018 Dec 9. doi: 10.1111/bpa.12620

PMCID:: PMC6581194

Abstract Article PDF–670K

Select item 648586718.

Genetic variants in cardiac calcification in Northern Sweden

Urban Hellman, Stellan Mörner, Michael Henein

Medicine (Baltimore) 2019 Apr; 98(15): e15065. Published online 2019 Apr 12. doi: 10.1097/MD.0000000000015065

PMCID:: PMC6485867

Abstract Article PDF–261K

Select item 627586219.

Dysregulation of gene expression in ABCC6 knockdown HepG2 cells

Rocchina Miglionico, Maria Francesca Armentano, Monica Carmosino, Antonella Maria Salvia, Flavia Cuviello, Faustino Bisaccia, Angela Ostuni

Cell Mol Biol Lett. 2014 Dec; 19(4): 517–526. Published online 2014 Aug 29. doi: 10.2478/s11658-014-0208-2

PMCID:: PMC6275862

Summary PDF–1.8M

Select item 590245020.

Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates

Bruna Parreira, João C. R. Cardoso, Rita Costa, Ana Rita Couto, Jácome Bruges-Armas, Deborah M. Power

Sci Rep. 2018; 8: 6027. Published online 2018 Apr 16. doi: 10.1038/s41598-018-24370-7

PMCID:: PMC5902450

Abstract Article PDF–3.5M

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