Results 11 to 20 of about 3,094 (152)
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 +4 more sources
ABCC6 deficiency promotes dyslipidemia and atherosclerosis
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 +2 more sources
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. [PDF]
PLoS ONE, 2014 The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein (ABCC6), primarily expressed in liver and kidney. Mutations in the ABCC6 gene cause pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue ...
Mohammad Jakir Hosen +5 more
doaj +2 more sources
Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations [PDF]
Frontiers in Genetics, 2013 The human ABCC6 gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines. We review here the mechanisms of this restricted tissue-specific expression and the role of hepatocyte ...
Tamás eArányi +9 more
doaj +2 more sources
PLoS ONE, 2022 The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or
Christine O’Brien +5 more
doaj +3 more sources
The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters? [PDF]
Frontiers in Genetics, 2013 ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a variety of substrates.
Olivier M. Vanakker +2 more
doaj +2 more sources
Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells [PDF]
Frontiers in Molecular Biosciences, 2018 The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is an ATP dependent transporter mainly found in the basolateral plasma membrane of hepatic and kidney cells. Mutations in ABCC6 gene were associated to the Pseudoxanthoma elasticum (PXE),
Fabio Martinelli +6 more
doaj +2 more sources
PLoS ONE, 2015 Coxsackievirus type B3 (CVB3) is a cardiotropic enterovirus. Infection causes cardiomyocyte necrosis and myocardial inflammation. The damaged tissue that results is replaced with fibrotic or calcified tissue, which can lead to permanently altered cardiac
Jennifer Marton +8 more
doaj +2 more sources
Copy number variations of the ATP-binding cassette transporter
BMC Research Notes, 2012 Background The ATP-binding cassette transporter ABCC6 gene is located on chromosome 16 between its two pseudogenes (ABCC6P1 and ABCC6P2). Previously, we have shown that ABCC6P1 is transcribed and affects ABCC6 at the transcriptional level.
Kringen Marianne K +4 more
doaj +2 more sources
Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using a New Homology Model [PDF]
, 2021 Inactivating mutations in ABCC6 underlie the rare hereditary mineralization disorder pseudoxanthoma elasticum. ABCC6 is an ATP-binding cassette (ABC) integral membrane protein that mediates the release of ATP from hepatocytes into the bloodstream.
Niaziorimi, Fatemeh +7 more
core +4 more sources