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ABCC6

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https://www.readbyqxmd.com/read/28536638/abcc6-knockdown-in-hepg2-cells-induces-a-senescent-like-cell-phenotype
#1
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. The ABCC6 substrate (s) and the PXE pathomechanism remain unknown. Recent studies have shown that overexpression of ABCC6 in HEK293 cells results in efflux of ATP, which is rapidly converted into nucleoside monophosphates and pyrophosphate (PPi)...
2017: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/28486967/pseudoxanthoma-elasticum
#2
REVIEW
Dominique P Germain
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas...
May 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28416300/pyrophosphate-supplementation-prevents-chronic-and-acute-calcification-in-abcc6-deficient-mice
#3
Viola Pomozi, Christopher Brampton, Koen van de Wetering, Janna Zoll, Bianca Calio, Kevin Pham, Jesse B Owens, Joel Marh, Stefan Moisyadi, András Váradi, Ludovic Martin, Carolin Bauer, Jeanette Erdmann, Zouhair Aherrahrou, Olivier Le Saux
Soft tissue calcification occurs in several common acquired pathologies, such as diabetes and hypercholesterolemia, or can result from genetic disorders. ABCC6, a transmembrane transporter primarily expressed in liver and kidneys, initiates a molecular pathway inhibiting ectopic calcification. ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into pyrophosphate (PPi), a major calcification inhibitor. Heritable mutations in ABCC6 underlie the incurable calcification disorder pseudoxanthoma elasticum and some cases of generalized arterial calcification of infancy...
June 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28383515/abc-transport-proteins-in-cardiovascular-disease-a-brief-summary
#4
REVIEW
Toni Schumacher, Ralf A Benndorf
Adenosine triphosphate (ATP)-binding cassette (ABC) transporters may play an important role in the pathogenesis of atherosclerotic vascular diseases due to their involvement in cholesterol homeostasis, blood pressure regulation, endothelial function, vascular inflammation, as well as platelet production and aggregation. In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia. These findings led to the understanding of those transporter's function in cellular cholesterol efflux and thereby also linked them to atherosclerosis and cardiovascular diseases (CVD)...
April 6, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28186352/analysis-of-clinical-symptoms-and-abcc6-mutations-in-76-japanese-patients-with-pseudoxanthoma-elasticum
#5
Akira Iwanaga, Yumi Okubo, Mariko Yozaki, Yuta Koike, Yutaka Kuwatsuka, Saori Tomimura, Yosuke Yamamoto, Hiroshi Tamura, Satoshi Ikeda, Koji Maemura, Eiko Tsuiki, Takashi Kitaoka, Yuichiro Endo, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Tomoo Ogi, Hideaki Tanizaki, Mari Wataya-Kaneda, Tomoyasu Hattori, Atsushi Utani
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. Neither detailed nor large-scale analyses have been accomplished in Japanese patients with PXE. We, therefore, investigated clinical symptoms and ABCC6 gene mutations in 76 Japanese patients. Japanese PXE patients (n = 76) had a significantly lower incidence of vascular lesions than 505 PXE patients in the Leiden Open Variation Database (LOVD) (38...
February 10, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28111129/abcc6-knockout-rat-model-highlights-the%C3%A2-role-of-liver-in-ppi-homeostasis-in%C3%A2-pseudoxanthoma-elasticum
#6
Qiaoli Li, Joshua Kingman, Koen van de Wetering, Sami Tannouri, John P Sundberg, Jouni Uitto
Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6(-/-) rats as models of pseudoxanthoma elasticum depicting ectopic mineralization in the skin, eyes, and the arterial blood vessels...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#7
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27994049/stabilization-of-nucleotide-binding-domain-dimers-rescues-abcc6-mutants-associated-with-pseudoxanthoma-elasticum
#8
Yanchao Ran, Patrick H Thibodeau
ABC transporters are polytopic membrane proteins that utilize ATP binding and hydrolysis to facilitate transport across biological membranes. Forty-eight human ABC transporters have been identified in the genome, and the majority of these are linked to heritable disease. Mutations in the ABCC6 (ATP binding cassette transporter C6) ABC transporter are associated with pseudoxanthoma elasticum, a disease of altered elastic properties in multiple tissues. Although ∼200 mutations have been identified in pseudoxanthoma elasticum patients, the underlying structural defects associated with the majority of these are poorly understood...
February 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27927085/increased-vascular-occlusion-in-patients-with-pseudoxanthoma-elasticum
#9
Simon Pingel, Kristin Solveig Pausewang, Sebastian Gorgonius Passon, Anna Katharina Blatzheim, Martin Gliem, Peter Charbel Issa, Doris Hendig, Fritz Horlbeck, Izabela Tuleta, Georg Nickenig, Nadjib Schahab, Dirk Skowasch, Christian Alexander Schaefer
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive inherited multisystem disorder of the connective tissue caused by a loss-of-function mutation of the ABCC6 gene. It can affect the cardiovascular system, presumably leading to a high prevalence of atherosclerosis. PATIENTS AND METHODS: 46 PXE patients and 18 controls underwent an angiological examination consisting of measurement of ankle-brachial index (ABI), strain-gauge arterial reserve (SGAR), arterial resting perfusion, pulse wave index (PWI), central pulse wave velocity, and ultrasound examination...
January 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/27922550/a-novel-abcc6-haplotype-is-associated-with-azathioprine-drug-response-in-myasthenia-gravis
#10
Lara Colleoni, Barbara Galbardi, Claudia Barzago, Silvia Bonanno, Sara Franzi, Rita Frangiamore, Giorgia Camera, Maria Foti, Donatella Biancolini, Eleonora Canioni, Lorenzo Maggi, Carlo Antozzi, Renato Mantegazza, Pia Bernasconi, Dimos Kapetis
OBJECTIVE: We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS: Genomic DNA from 180 AZA-treated MG patients was screened through the Affymetrix DMET platform, which characterizes 1931 SNPs in 225 genes. The significant SNPs, identified to be involved in AZA response, were subsequently validated by allelic discrimination and direct sequencing...
December 2, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27826008/functional-rescue-of-abcc6-deficiency-by-4-phenylbutyrate-therapy-reduces-dystrophic-calcification-in-abcc6-mice
#11
Viola Pomozi, Christopher Brampton, Flóra Szeri, Dóra Dedinszki, Eszter Kozák, Koen van de Wetering, Hi'ilani Hopkins, Ludovic Martin, András Váradi, Olivier Le Saux
Soft-tissue calcification is associated with aging, common conditions such as diabetes or hypercholesterolemia, and with certain genetic disorders. ABCC6 is an efflux transporter primarily expressed in liver facilitating the release of adenosine triphosphate from hepatocytes. Within the liver vasculature, adenosine triphosphate is converted into pyrophosphate, a major inhibitor of ectopic calcification. ABCC6 mutations thus lead to reduced plasma pyrophosphate levels, resulting in the calcification disorder pseudoxanthoma elasticum and some cases of generalized arterial calcification of infancy...
March 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27758107/untargeted-metabolomics-analysis-of-abcc6-deficient-mice-discloses-an-altered-metabolic-liver-profile
#12
Mie R Rasmussen, Kirstine L Nielsen, Mia R Laursen, Camilla B Nielsen, Pia Svendsen, Henrik Dimke, Erik I Christensen, Mogens Johannsen, Søren K Moestrup
Loss-of-function mutations in the transmembrane ABCC6 transport protein cause pseudoxanthoma elasticum (PXE), an ectopic, metabolic mineralization disorder that affects the skin, eye, and vessels. ABCC6 is assumed to mediate efflux of one or several small molecule compounds from the liver cytosol to the circulation. Untargeted metabolomics using liquid chromatography-mass spectrometry was employed to inspect liver cytosolic extracts from mice with targeted disruption of the Abcc6 gene. Absence of the ABCC6 protein induced an altered profile of metabolites in the liver causing accumulation of compounds as more features were upregulated than downregulated in ABCC6-deficient mice...
December 2, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27721021/targeting-nf-%C3%AE%C2%BAb-rela-p65-phosphorylation-overcomes-rita-resistance
#13
Yiwen Bu, Guoshuai Cai, Yi Shen, Chenfei Huang, Xi Zeng, Yu Cao, Chuan Cai, Yuhong Wang, Dan Huang, Duan-Fang Liao, Deliang Cao
Inactivation of p53 occurs frequently in various cancers. RITA is a promising anticancer small molecule that dissociates p53-MDM2 interaction, reactivates p53 and induces exclusive apoptosis in cancer cells, but acquired RITA resistance remains a major drawback. This study found that the site-differential phosphorylation of nuclear factor-κB (NF-κB) RelA/p65 creates a barcode for RITA chemosensitivity in cancer cells. In naïve MCF7 and HCT116 cells where RITA triggered vast apoptosis, phosphorylation of RelA/p65 increased at Ser536, but decreased at Ser276 and Ser468; oppositely, in RITA-resistant cells, RelA/p65 phosphorylation decreased at Ser536, but increased at Ser276 and Ser468...
December 28, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27623860/approach-to-the-management-of-pregnancy-in-patients-with-pseudoxanthoma-elasticum-a-review
#14
Marta Camacho, Cristobal Rengel, Elisa López-Herrero, Juan L Carrillo, Agustín J Eslava, Pedro Valdivielso
Management of pregnancy in patients with rare diseases is often guided by incomplete knowledge because of a lack of high-quality case control studies or single-centre experience. Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central visual loss, and potential arterial insufficiency in most patients. It is due to mutations in ABCC6, which encodes the eponymous membrane transport protein...
November 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27622520/pseudoxanthoma-elasticum-also-a-lung-disease-the-respiratory-affection-of-patients-with-pseudoxanthoma-elasticum
#15
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS: In a cross-sectional study, 35 PXE patients and 15 healthy controls underwent a pulmonary function testing, including spirometry, body plethysmography and carbon monoxide diffusing test...
2016: PloS One
https://www.readbyqxmd.com/read/27617603/pseudoxanthoma-elasticum-report-of-a-case-with-a-novel-gene-mutation
#16
Nicole Meunier, Lisa Zaleski
Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Our patient had angioid streaks in her right eye, skin laxity of the bilateral dorsal hands, and yellow papules coalescing on the posterior neck...
June 16, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27447569/etidronate-prevents-but-does-not-reverse-ectopic-mineralization-in-a-mouse-model-of-pseudoxanthoma-elasticum-abcc6
#17
Qiaoli Li, Joshua Kingman, John P Sundberg, Michael A Levine, Jouni Uitto
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization. Most cases of PXE and some cases of GACI are caused by mutations in the ABCC6 gene, resulting in reduced plasma pyrophosphate (PPi) levels. There is no effective treatment for these disorders. It has been suggested that administration of bisphosphonates, stable and non-hydrolyzable PPi analogs, could counteract ectopic mineralization in these disorders...
July 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27422265/genetic-susceptibility-to-bortezomib-induced-peripheral-neuroropathy-replication-of-the-reported-candidate-susceptibility-loci
#18
Chiara Campo, Miguel Inacio Da Silva Filho, Niels Weinhold, Hartmut Goldschmidt, Kari Hemminki, Maximilian Merz, Asta Försti
The introduction of proteasome inhibitors in the treatment of multiple myeloma (MM) patients has been a therapeutic success. Peripheral neuropathy (PNP) remains one of the most frequent side-effects experienced by patients who receive these novel agents. Recent investigations on the mechanisms of PNP in patients treated with bortezomib have suggested genetic susceptibility to neurotoxicity. We used data from a genome-wide association study conducted on 646 bortezomib-treated German MM patients to replicate the previously reported associations between single-nucleotide polymorphisms (SNPs) in candidate genes and PNP in MM patients, including 298 SNPs with a nominal significance (p value <0...
March 2017: Neurochemical Research
https://www.readbyqxmd.com/read/27133371/-pseudoxanthoma-elasticum-a-rare-cause-of-gastrointestinal-bleeding-in-children
#19
A Dibi, E L El Fahime, N Mouane, R Dafiri, A Bentahila
INTRODUCTION: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding. CASE REPORTS: An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding...
June 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27066968/erratum-to-new-insights-into-the-roles-of-the-n-terminal-region-of-the-abcc6-transporter
#20
Rocchina Miglionico, Andrea Gerbino, Angela Ostuni, Maria Francesca Armentano, Magnus Monné, Monica Carmosino, Faustino Bisaccia
No abstract text is available yet for this article.
April 11, 2016: Journal of Bioenergetics and Biomembranes
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