Results 1 to 10 of about 3,094 (152)

Investigation on ABCC6-Deficient Human Hepatocytes Generated by CRISPR–Cas9 Genome Editing [PDF]

Cells
Patients affected by the rare disease pseudoxanthoma elasticum (PXE) exhibit the calcification of elastic fibers in ocular, dermal, and vascular tissues. These symptoms are triggered by mutations in the ATP-binding cassette transporter subfamily C member
Ricarda Plümers, Svenja Jelinek, Christopher Lindenkamp, Michel R. Osterhage, Cornelius Knabbe, Doris Hendig   +5 more
doaj   +3 more sources

ABCC6 deficiency is associated with activation of BMP signaling in liver and kidney [PDF]

FEBS Open Bio, 2015
Mutations in ABCC6 (ATP‐binding cassette, subfamily C, member 6), an orphan transporter expressed in the liver, are the cause of pseudoxanthoma elasticum.
Pierre Guihard, Aldons Jake Lusis, Jiayi Yao   +2 more
exaly   +3 more sources

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease [PDF]

Scientific Reports
ABCC6 pathogenic variants affect ischemic and hemorrhagic lesions in multiple organs and represent the third most common cause of hereditary cerebral small vessel diseases (CSVD) in Japan, yet their CSVD phenotypes remains unclear.
Sho Kitahara, Shoichiro Ando, Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Daisuke Hirozawa, Emi Nomura, Kohei Okubo, Asami Munekane, Takumi Tashiro, Kanako Asai, Minako Yamaoka, Tomone Taneda, Yutaka Honma, Hajime Kondo, Ryo Itabashi, Akira Iwanaga, Hiroyuki Murota, Hitoshi Aizawa, Tomohiko Ishihara, Osamu Onodera   +20 more
doaj   +3 more sources

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

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, Faustino Bisaccia   +2 more
exaly   +4 more sources

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis [PDF]

Orphanet Journal of Rare Diseases
Background ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), or the ...
Marta Bertamino, David J. Goldberg, M. Zulf Mughal, Lisa Pabst, Yaping Joyce Liao, Lisa R. Sun, Jane Beckwell, Amina Kozaric, Ruth du Moulin, Katie Swanner, Carlos R. Ferreira, Shira G. Ziegler   +11 more
doaj   +2 more sources

Loss of ABCC6 in Human Mesenchymal Stem Cells Leads to Elevated Reactive Oxygen Species Formation and a Senescence-like Phenotype [PDF]

Antioxidants
Pseudoxanthoma elasticum (PXE) is an autosomal-recessive disorder caused by mutations in ATP-binding cassette subfamily C member 6 (ABCC6). In addition to the calcification and fragmentation of elastic fibers as the pathomechanistic cause of PXE ...
Michel R. Osterhage, Cornelius Knabbe, Doris Hendig   +2 more
doaj   +2 more sources

The liver regulates ectopic calcification in Abcc6-deficient models of pseudoxanthoma elasticum [PDF]

The Journal of Clinical Investigation
Pseudoxanthoma Elasticum (PXE) is a rare disease caused by loss of function of the ATP-binding cassette C (ABC) member 6 (Abcc6) gene and characterized by ectopic calcification of multiple tissues, but the physiological reasons underlying ectopic ...
Yijie Wang, Baiming Sun, Feiyang Ma, Bo Tao, Yiqian Gu, Zhiqiang Zhou, Jason Kim, Linlin Zhang, Zhihao Liu, Johanna ten Hoeve, Linsey Stiles, Lucia Fernandez del Rio, Calvin Pan, Orian Shirihai, Shili Xu, Thomas G. Graeber, Tamer Sallam, Matteo Pellegrini, Aldons J. Lusis, Arjun Deb   +19 more
doaj   +2 more sources

Conserved transcriptional co-regulation of pyrophosphate homeostasis genes governs systemic mineralization factors in mice and humans [PDF]

Molecular Metabolism
Inorganic pyrophosphate (PPi) is a key inhibitor of ectopic calcification, yet transcriptional regulation of genes controlling its systemic production and degradation (ABCC6, ALPL, ANKH, and ENPP1) remains poorly understood.
Virgil Tamatey, Martin Várhegyi, Bence Blaha, Judith Van Wynsberghe, Lona Lion, Zahira Ahmadi, Dénes Juhász, Emese Bata, Dániel Márton Tóth, Muhyiddeen Muazu, Anikó Ilona Nagy, Celia P. Martinez-Jimenez, Olivier Vanakker, Tamás Arányi, Flóra Szeri   +14 more
doaj   +2 more sources

Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report [PDF]

Case Reports in Dermatology
Introduction: 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, Yohei Iwata, Rena Yasuda, Akira Iwanaga, Hiroyuki Murota, Kazumitsu Sugiura   +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 Acids
Pseudoxanthoma 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, Dora Obiri-Yeboah, Hooda Said, Ping Qu, Michael A. Levine, Mohamad-Gabriel Alameh, Kiran Musunuru, Qiaoli Li, Xiao Wang   +8 more
doaj   +2 more sources