| Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6. | Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.
Schott C, Dilliott AA, Wang J, McIntyre AD, Son S, Colaiacovo S, Baker C, Gunaratnam L, House AA, Susan Huang SH, Iyer H, Johnson J, Lotfy K, Masellis M, Munoz DP, Rehman F, Roshanov PS, Swartz RH, Weir MA, Hegele RA, Connaughton DM. | 08/30/2024 |
| The 75-99 C-Terminal Peptide of URG7 Protein Promotes alpha-Synuclein Disaggregation. | The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.
Dandurand J, Monné M, Samouillan V, Rosa M, Laurita A, Pistone A, Bisaccia D, Matera I, Bisaccia F, Ostuni A., Free PMC Article | 02/28/2024 |
| CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease. | CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.
Liu Y, Huang Y, Zhang X, Ma X, He X, Gan C, Zou X, Wang S, Shu K, Lei T, Zhang H., Free PMC Article | 12/31/2022 |
| High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. | High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M, Hatano Y, Nozaki H, Ando S, Kondo H, Hanazono A, Iwanaga A, Murota H, Osakada Y, Osaki M, Kanazawa M, Kanai M, Shibata Y, Saika R, Miyatake T, Aizawa H, Ikeuchi T, Tomimoto H, Mizuta I, Mizuno T, Ishihara T, Onodera O., Free PMC Article | 12/24/2022 |
| 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. | 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.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T., Free PMC Article | 12/17/2022 |
| ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer. | ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.
Hashemi M, Golalipour M. | 10/8/2022 |
| Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis. | Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
Plümers R, Osterhage MR, Lindenkamp C, Knabbe C, Hendig D., Free PMC Article | 09/3/2022 |
| Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. | Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J, Li Q., Free PMC Article | 05/14/2022 |
| Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines. | Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ, Vanakker OM. | 04/30/2022 |
| Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model. | Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
Steyaert W, Verschuere S, Coucke PJ, Vanakker OM. | 01/22/2022 |
| Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. | Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F., Free PMC Article | 01/1/2022 |
| ABCC6 deficiency promotes dyslipidemia and atherosclerosis. | ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O., Free PMC Article | 01/1/2022 |
| Increased endothelial sodium channel activity by extracellular vesicles in human aortic endothelial cells: putative role of MLP1 and bioactive lipids. | Increased endothelial sodium channel activity by extracellular vesicles in human aortic endothelial cells: putative role of MLP1 and bioactive lipids.
Nouri MZ, Yu L, Liu LP, Chacko KM, Denslow ND, LaDisa JF Jr, Alli AA., Free PMC Article | 09/25/2021 |
| Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology. | Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology.
Szeri F, Niaziorimi F, Donnelly S, Orndorff J, van de Wetering K., Free PMC Article | 07/24/2021 |
| Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc. | Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. | 07/10/2021 |
| Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance. | Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.
Bisaccia F, Koshal P, Abruzzese V, Castiglione Morelli MA, Ostuni A., Free PMC Article | 05/8/2021 |
| Inhibition of ABCC6 Transporter Modifies Cytoskeleton and Reduces Motility of HepG2 Cells via Purinergic Pathway. | Inhibition of ABCC6 Transporter Modifies Cytoskeleton and Reduces Motility of HepG2 Cells via Purinergic Pathway.
Ostuni A, Carmosino M, Miglionico R, Abruzzese V, Martinelli F, Russo D, Laurenzana I, Petillo A, Bisaccia F., Free PMC Article | 03/6/2021 |
| Retinal findings in carriers of monoallelic ABCC6 mutations. | Retinal findings in carriers of monoallelic ABCC6 mutations.
Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D, Holz FG, Finger RP, Charbel Issa P. | 01/16/2021 |
| Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant. | Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.
Charbel Issa P, Tysoe C, Caswell R. | 11/21/2020 |
| Six disease causing amino acid mutations in human MRP6 are a normal feature of abcc6 in fish, suggesting they do not have a deleterious effect on the protein. | Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates.
Parreira B, Cardoso JCR, Costa R, Couto AR, Bruges-Armas J, Power DM., Free PMC Article | 10/5/2019 |
| the L0 cytoplasmic loop of human multidrug resistance protein 6 was characterized. | Structural characterization of the L0 cytoplasmic loop of human multidrug resistance protein 6 (MRP6).
Ostuni A, Castiglione Morelli MA, Cuviello F, Bavoso A, Bisaccia F. | 09/21/2019 |
| A novel homozygous frameshift variant in ABCC6(c.1799_1805dupGTCTGGT) was identified in one family and two previously reported missense variants (c.2294G > A and c.2974G > A) in compound heterozygous form in the other family. | Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
Khan FF, Erfan M, Kanwal N, Naeem M. | 07/13/2019 |
| Study shows that ABCC6 loss of function in pseudoxanthoma elasticum PXE has a profound impact on vascular purine metabolism through modified arterial gene expression, soluble nucleotidase activities, and, finally, circulating nucleotide levels. | Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.
Kauffenstein G, Yegutkin GG, Khiati S, Pomozi V, Le Saux O, Leftheriotis G, Lenaers G, Henrion D, Martin L., Free PMC Article | 06/15/2019 |
| This study identified heterozygous ABCC6 variants as a risk factor for ischemic stroke. | Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM., Free PMC Article | 06/1/2019 |
| Pilot study examined 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5'-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PPi) and inorganic phosphate (Pi) metabolism, which may predispose to coronary arterial or valvular calcification; report 4 new genetic variants potentially related to coronary calcification. | Genetic variants in cardiac calcification in Northern Sweden.
Hellman U, Mörner S, Henein M., Free PMC Article | 04/27/2019 |