Results 41 to 50 of about 2,873 (186)

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.

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, Abdullah Zubaer, Simrika Thapa, Bijendra Khadka, Anne De Paepe, Olivier M Vanakker   +5 more
doaj   +1 more source

ABCC6 plays a significant role in the transport of nilotinib and dasatinib, and contributes to TKI resistance in vitro, in both cell lines and primary patient mononuclear cells.

PLoS ONE, 2018
ATP Binding Cassette family efflux proteins ABCB1 and ABCG2 have previously been demonstrated to interact with Tyrosine Kinase Inhibitors (TKIs); however, evidence for the interaction of other potentially relevant drug transporters with TKIs is lacking ...
Laura N Eadie, Phuong Dang, Jarrad M Goyne, Timothy P Hughes, Deborah L White   +4 more
doaj   +1 more source

ABCC6 Mutation in Patients with Angioid Streaks

International Journal of Biomedical Science, 2006
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The locus of PXE has been reported to exist in chromosome 16p13.1, and the ABCC6 gene in this locus has been identified as the causal gene of PXE.
Yoshihiro, Mizutani, Tomohiro, Nakayama, Satoshi, Asai, Hiroyuki, Shimada, Mitsuko, Yuzawa   +4 more
openaire   +2 more sources

A novel ABCC6 variant causative of pseudoxanthoma elasticum [PDF]

Human Genome Variation, 2019
AbstractPseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises the ...
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, NISTICO' SP, Colao E, Perrotti N, Iuliano R.   +10 more
openaire   +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, Donnelly, Sylvia, Szeri, Flóra, Conseil, Gwenaëlle, Cole, Susan P C, Corradi, Valentina, Tieleman, D Peter, van de Wetering, Koen   +7 more
core   +3 more sources

ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype

Cellular & Molecular Biology Letters, 2017
Background Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists.
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia   +6 more
doaj   +1 more source

Identification of a New Splice Variant of the Human ABCC6 Transporter [PDF]

Research Letters in Biochemistry, 2008
ABCC6 is a member of the adenosine triphosphate-binding cassette (ABC) gene subfamily C that encodes a protein (MRP6) involved in active transport of intracellular compounds to the extracellular environment. Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of the connective tissue characterized by progressive ...
Maria Francesca Armentano, Angela Ostuni, Vittoria Infantino, Vito Iacobazzi, Maria Antonietta Castiglione Morelli, Faustino Bisaccia   +5 more
openaire   +3 more sources

Retinal findings in carriers of monoallelic ABCC6 mutations [PDF]

British Journal of Ophthalmology, 2019
AimBiallelic ABCC6 mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic ABCC6 mutations are also associated with retinal alterations.MethodsIn this prospective, cross-sectional, monocentre case–control study, carriers
Martin Gliem, Isabel Wieg, Johannes Birtel, Philipp L Müller, Isabel Faust, Doris Hendig, Frank G Holz, Robert P Finger, Peter Charbel Issa   +8 more
openaire   +5 more sources

From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report

Frontiers in Medicine, 2021
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease clinically characterised by early cutaneous alterations, and by late clinically relevant ocular, and cardiovascular manifestations.
Francesco Demetrio Lofaro, Dario Pasquale Mucciolo, Vittoria Murro, Laura Pavese, Daniela Quaglino, Federica Boraldi   +5 more
doaj   +1 more source

Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.

PLoS ONE, 2014
Pseudoxanthoma elasticum (PXE), a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene. Null mice (Abcc6(-/-) ) recapitulate the genetic, histopathologic and ultrastructural features of PXE, and they demonstrate early and ...
Qiaoli Li, Haitao Guo, David W Chou, Annerose Berndt, John P Sundberg, Jouni Uitto   +5 more
doaj   +1 more source