Results 21 to 30 of about 2,873 (186)

Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype [PDF]

Journal of Clinical Medicine, 2023
Background: Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PPi). It is unknown how ABCC6 genotype affects plasma PPi.
Eszter Kozák, Jonas W. Bartstra, Pim A. de Jong, Willem P. T. M. Mali, Krisztina Fülöp, Natália Tőkési, Viola Pomozi, Sara Risseeuw, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, András Váradi, Wilko Spiering   +11 more
core   +6 more sources

Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes [PDF]

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, Stormo Camilla, Grimholt Runa M, Berg Jens P, Piehler Armin P   +4 more
doaj   +2 more sources

The molecular and physiological roles of ABCC6: more than meets the eye

Frontiers in Genetics, 2012
Abnormal mineralization occurs in the context of several common conditions, including advanced age, diabetes, hypercholesterolemia, chronic renal failure and certain genetic conditions. Metabolic, mechanical, infectious, and inflammatory injuries promote
Olivier eLe Saux, Ludovic eMartin, Zouhair eAherrahrou, Georges eLeftheriotis, Andras eVaradi, Christopher N. Brampton   +5 more
doaj   +3 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, Flavia Cuviello, Maria C. Pace, Maria F. Armentano, Rocchina Miglionico, Angela Ostuni, Faustino Bisaccia   +6 more
doaj   +2 more sources

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations

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, Caroline eBacquet, Hugues ede Boussac, Marcin eRatajewski, Viola ePomozi, Krisztina eFülöp, Christopher N Brampton, Lukasz ePulaski, Olivier eLe Saux, András eVáradi   +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, Chelsea M Crum, Patrick H Thibodeau   +2 more
doaj   +2 more sources

Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models [PDF]

Pharmaceuticals
Background/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, Maria del Mar Pérez-Ferrer, Marc Blasco, Ida Joely Jacobs, Qiaoli Li, Olivier M. Vanakker, Lisa Dangreau, Andrea López, Gianluca Malagraba, Firas Bassissi, Joan Perelló, Carolina Salcedo   +11 more
doaj   +2 more sources

Association of ATP‐binding cassette transporter genomic alterations and expressions with patient survival in breast and prostate cancer [PDF]

Physiological Reports
ATP‐Binding Cassette (ABC) transporters play a key role in drug resistance and cancer progression. We analyzed the correlation between ABC transporter gene alterations and patient survival in breast and prostate cancers using large‐scale genomic datasets.
Abdulaziz H. Alanazi, Nidhi Shenoy, Payaningal R. Somanath   +2 more
doaj   +2 more sources

The Expression Level of ABCC6 Transporter in Colon Cancer Cells Correlates with the Activation of Different Intracellular Signaling Pathways

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, Caecilia H. C. Sukowati, Claudio Tiribelli, Ilenia Matera, Angela Ostuni, Faustino Bisaccia   +5 more
doaj   +1 more source

ABCC6 as a Target in Pseudoxanthoma Elasticum [PDF]

Current Drug Targets, 2011
The ABCC6 gene encodes an organic anion transporter protein, ABCC6/MRP6. Mutations in the gene cause a rare, recessive genetic disease, pseudoxanthoma elasticum, while the loss of one ABCC6 allele is a genetic risk factor in coronary artery disease. We review here the information available on gene structure, evolution as well as the present knowledge ...
András, Váradi, Zalán, Szabó, Viola, Pomozi, Hugues, de Boussac, Krisztina, Fülöp, Tamás, Arányi   +5 more
openaire   +2 more sources