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
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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
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
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
Regulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequence. [PDF]
PLoS ONE, 2014 Mutations in the ABCC6 ABC-transporter are causative of pseudoxanthoma elasticum (PXE). The loss of functional ABCC6 protein in the basolateral membrane of the kidney and liver is putatively associated with altered secretion of a circulatory factor. As a
Peng Xue +2 more
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Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report [PDF]
Case Reports in DermatologyIntroduction: Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease caused by the calcification and degeneration of elastic fibers, affecting the skin, retina, blood vessels, and gastrointestinal tracts.
Akihiro Fukuta +5 more
doaj +2 more sources
Liver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum [PDF]
Molecular Therapy: Nucleic AcidsPseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder characterized by ectopic calcification of elastic fibers throughout the skin, retina, and arteries.
Lauren C. Testa +8 more
doaj +2 more sources
Cells, 2022 Moyamoya disease (MMD) is an occlusive, chronic cerebrovascular disease affected by genetic mutation and the immune response. Furthermore, vascular smooth muscle cells (VSMCs) and endothelial cells (ECs) participate in the neointima of MMD, but the ...
Huaqiu Zhang +2 more
exaly +3 more sources
Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models [PDF]
PharmaceuticalsBackground/Objectives: Ectopic calcification is a pathological condition characterized by the mineralization of soft tissues due to the deposition of calcium phosphate crystals.
Miguel D. Ferrer +11 more
doaj +2 more sources
Pathophysiology, 2022 The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is mainly found in the basolateral plasma membrane of hepatic and kidney cells. In hepatocarcinoma HepG2 cells, ABCC6 was involved in cell migration. In the present study, we investigated
Vittorio Abruzzese +5 more
doaj +1 more source