Results 31 to 40 of about 3,078 (183)

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

Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification

Scientific Reports, 2022
Pseudoxanthoma elasticum (PXE) is a multisystem, genetic, ectopic mineralization disorder with no effective treatment. Inhibition of tissue-nonspecific alkaline phosphatase (TNAP) may prevent ectopic soft tissue calcification by increasing endogenous ...
Kaori Soma, Kengo Watanabe, Masanori Izumi   +2 more
doaj   +1 more source

The Human Face of ABCC6 [PDF]

FEBS Letters, 2020
Researchers working on basic and translational clinical science related to ABC transporters are enthusiastic and dedicated investigators. As the field has grown, so has its contribution to human disease. Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non‐scientists, began supporting research and convenings on ...
openaire   +2 more sources

The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome

Frontiers in Bioscience-Landmark, 2023
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 (ABCC6) gene.
Janina Tiemann, Christopher Lindenkamp, Thomas Wagner, Andreas Brodehl, Ricarda Plümers, Isabel Faust-Hinse, Cornelius Knabbe, Doris Hendig   +7 more
doaj   +1 more source

ABCC6 Knockdown Fuels Cell Proliferation by Regulating PPARα in Hepatocellular Carcinoma

Frontiers in Oncology, 2022
The ATP binding cassette (ABC) transporter family is ubiquitous in eukaryotes, specifically in vertebrates, and plays a crucial role in energy homeostasis, cell signaling, and drug resistance.
Zhicong Zhao, Zhicong Zhao, Zhenjun Zhao, Jianye Wang, Jianye Wang, He Zhang, He Zhang, Zhifeng Xi, Qiang Xia, Qiang Xia, Qiang Xia   +10 more
doaj   +1 more source

弾性線維性仮性黄色腫を有する日本人患者76人における臨床症状とABCC6遺伝子変異の解析 [PDF]

, 2017
Pseudoxanthoma elasticum (PXE) is a hereditary disease, causing calcification and degeneration of elastic fibers, which affects the skin, eye, cardiovascular systems and gastrointestinal tract. PXE is caused by mutations in the ABCC6 gene.
岩永, 聰
core   +1 more source

Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective

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, Gus Khursigara, Pedro Huertas, Beth Leiro, Liz Molloy, Catherine Nester   +5 more
doaj   +2 more sources

Abcc6 Null Mice—a Model for Mineralization Disorder PXE Shows Vertebral Osteopenia Without Enhanced Intervertebral Disc Calcification With Aging

Frontiers in Cell and Developmental Biology, 2022
Chronic low back pain is a highly prevalent health condition intricately linked to intervertebral disc degeneration. One of the prominent features of disc degeneration that is commonly observed with aging is dystrophic calcification. ATP-binding cassette
Paige K. Boneski, Vedavathi Madhu, Ryan E. Tomlinson, Irving M. Shapiro, Koen van de Wetering, Makarand V. Risbud   +5 more
doaj   +1 more source

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum [PDF]

The American Journal of Human Genetics, 2001
To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these, 28 were novel variants (for a total of 43 PXE ...
O, Le Saux, K, Beck, C, Sachsinger, C, Silvestri, C, Treiber, H H, Göring, E W, Johnson, A, De Paepe, F M, Pope, I, Pasquali-Ronchetti, L, Bercovitch, A S, Marais, D L, Viljoen, S F, Terry, C D, Boyd   +14 more
openaire   +2 more sources

Inhibition of ABCC6 Transporter Modifies Cytoskeleton and Reduces Motility of HepG2 Cells via Purinergic Pathway

Cells, 2020
ABCC6, belonging to sub-family C of ATP-binding cassette transporter, is an ATP-dependent transporter mainly present in the basolateral plasma membrane of hepatic and kidney cells.
Angela Ostuni, Monica Carmosino, Rocchina Miglionico, Vittorio Abruzzese, Fabio Martinelli, Daniela Russo, Ilaria Laurenzana, Agata Petillo, Faustino Bisaccia   +8 more
doaj   +1 more source