Results 11 to 20 of about 2,873 (186)
ABCC6 deficiency promotes dyslipidemia and atherosclerosis [PDF]
Scientific Reports, 2021 ABCC6 deficiency promotes ectopic calcification; however, circumstantial evidence suggested that ABCC6 may also influence atherosclerosis. The present study addressed the role of ABCC6 in atherosclerosis using Ldlr −/− mice and pseudoxanthoma elasticum ...
Christopher Brampton +13 more
doaj +5 more sources
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice [PDF]
Scientific Reports, 2021 Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). ABCC6 sequence variations are correlated with altered HDL cholesterol levels and an elevated risk of coronary artery diseases.
Bettina Ibold +10 more
doaj +10 more sources
ABCC6 and pseudoxanthoma elasticum [PDF]
Pflügers Archiv - European Journal of Physiology, 2006 ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein family is involved in a large variety of physiological processes, such as signal transduction, protein secretion, drug and antibiotic resistance, and antigen presentation [Kool et al. (1999) 59:175-182; Borst and Elferink (2002) 71:537-592].
Bergen, A.A.B. +4 more
core +5 more sources
ABCC6 Is a Basolateral Plasma Membrane Protein [PDF]
Circulation Research, 2013 Rationale: ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxanthoma elasticum and general arterial calcification of infancy. To elucidate the role of ABCC6 in cellular physiology and disease, it is crucial to establish the exact subcellular localization of the ...
Pomozi, V. +11 more
openaire +5 more sources
Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6–/– Mice [PDF]
Journal of Investigative Dermatology, 2017 Soft-tissue calcification is associated with aging, common conditions such as diabetes or hypercholesterolemia, and with certain genetic disorders. ABCC6 is an efflux transporter primarily expressed in liver facilitating the release of adenosine triphosphate from hepatocytes.
Viola, Pomozi +9 more
openaire +4 more sources
The ABCC6 Transporter: A New Player in Biomineralization [PDF]
International Journal of Molecular Sciences, 2017 Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is ...
Guillaume Favre +9 more
core +6 more sources
Tissue-Specific Expression of the ABCC6 Gene [PDF]
Journal of Investigative Dermatology, 2005 The ABCC6 gene encodes MRP6, a member of the multidrug resistance-associated protein (MRP) family. Interest in ABCC6/MRP6 derives, in part, from the fact that mutations in this gene/protein system have been identified in families with pseudoxanthoma elasticum (PXE).
Matsuzaki, Yasushi +4 more
openaire +3 more sources
Is ABCC6 a genuine mitochondrial protein? [PDF]
BMC Research Notes, 2013 A recent article in Circulation Research suggests that the protein ABCC6, which when defective is responsible for pseudoxanthoma elasticum, an inherited condition with skin, eye and cardiovascular manifestations, is associated with dysfunction in mitochondria--Martin et al.: ABCC6 Localizes to the Mitochondria-Associated Membrane.Circ Res 2012, 111:516-
Ferré, Marc +8 more
openaire +5 more sources
ABCC6 Deficiency Promotes Development of Randall Plaque [PDF]
Journal of the American Society of Nephrology, 2018 Background Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones.
Letavernier, Emmanuel +18 more
openaire +4 more sources
Novel ABCC6 Mutations in Pseudoxanthoma Elasticum [PDF]
Journal of Investigative Dermatology, 2004 Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants.
Chassaing, Nicolas +7 more
openaire +3 more sources