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647 results

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Page 1
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. Verschuere S, et al. Genet Med. 2021 Jan;23(1):131-139. doi: 10.1038/s41436-020-00945-6. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873932 Free article.
It is caused by biallelic pathogenic variants in the ABCC6 gene. To date, over 300 ABCC6 variants are associated with PXE, more than half being missense variants. ...METHODS: We used a systematic approach for interpretation of 271 previously reported and 15 novel …
It is caused by biallelic pathogenic variants in the ABCC6 gene. To date, over 300 ABCC6 variants are associated with PXE, mor …
ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.
Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O. Shimada BK, et al. Int J Mol Sci. 2021 Apr 27;22(9):4555. doi: 10.3390/ijms22094555. Int J Mol Sci. 2021. PMID: 33925341 Free PMC article. Review.
ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). ...This review seeks to summarize the role of ABCC6 in ectopic calcification in PXE and other calcification disorders, and discuss therapeutic strategies targeting vari …
ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). ...This review seeks to summarize t …
The Human Face of ABCC6.
Terry SF. Terry SF. FEBS Lett. 2020 Dec;594(23):4151-4157. doi: 10.1002/1873-3468.14002. Epub 2020 Dec 8. FEBS Lett. 2020. PMID: 33211322 Free article. Review.
Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non-scientists, began supporting research and convenings on these transporters, specifically ABCC6, the gene associated with PXE, 20 years ago. As a patient advocacy organization, we have …
Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non-scientists, began supporting research and convenin …
Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury.
Casemayou A, Belliere J, Letavernier E, Colliou E, El Hachem H, Zarowski J, Bazin D, Kounde C, Piedrafita A, Feuillet G, Schanstra JP, Faguer S. Casemayou A, et al. Sci Rep. 2023 Dec 6;13(1):21513. doi: 10.1038/s41598-023-47894-z. Sci Rep. 2023. PMID: 38057332 Free PMC article.
This improved kidney outcome at day 2 translated to a trend in improved glomerular filtration rate at month 2 in Abcc6(-/-)mice and to significantly less interstitial fibrosis. In addition, whereas the pattern of infiltrating cells at day 2 was similar between wt and ko mi …
This improved kidney outcome at day 2 translated to a trend in improved glomerular filtration rate at month 2 in Abcc6(-/-)mice and t …
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G, Laurain A, Aranyi T, Szeri F, Fulop K, Le Saux O, Duranton C, Kauffenstein G, Martin L, Lefthériotis G. Favre G, et al. Int J Mol Sci. 2017 Sep 11;18(9):1941. doi: 10.3390/ijms18091941. Int J Mol Sci. 2017. PMID: 28891970 Free PMC article. Review.
This leads to decreased PPi/Pi (inorganic phosphate) ratio that results from the lack of extracellular ATP release by hepatocytes and probably renal cells harboring the mutant ABCC6 protein. However, the mechanism by which ABCC6 dysfunction causes diminished ATP rel …
This leads to decreased PPi/Pi (inorganic phosphate) ratio that results from the lack of extracellular ATP release by hepatocytes and probab …
ABCC6 and pseudoxanthoma elasticum.
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. Pflugers Arch. 2007 Feb;453(5):685-91. doi: 10.1007/s00424-005-0039-0. Epub 2006 Apr 8. Pflugers Arch. 2007. PMID: 16604369 Review.
ABCC6 is primarily and highly expressed in the liver and kidney [Kool et al. (1999) 59:175-182; Bergen et al. (2000) 25:228-2231]. ...Recently, a mouse model for PXE was created by targeted disruption of Abcc6 [Gorgels et al. (2005) 14:1763-1773; Klement et al. (200 …
ABCC6 is primarily and highly expressed in the liver and kidney [Kool et al. (1999) 59:175-182; Bergen et al. (2000) 25:228-2231]. .. …
From membrane to mineralization: the curious case of the ABCC6 transporter.
Verschuere S, Van Gils M, Nollet L, Vanakker OM. Verschuere S, et al. FEBS Lett. 2020 Dec;594(23):4109-4133. doi: 10.1002/1873-3468.13981. Epub 2020 Nov 21. FEBS Lett. 2020. PMID: 33131056 Free article. Review.
ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease pseudoxanthoma elasticum (PXE). Since then, the physiological and pathologi …
ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, cau …
ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O. Brampton C, et al. Sci Rep. 2021 Feb 16;11(1):3881. doi: 10.1038/s41598-021-82966-y. Sci Rep. 2021. PMID: 33594095 Free PMC article.
ABCC6 deficiency promotes ectopic calcification; however, circumstantial evidence suggested that ABCC6 may also influence atherosclerosis. The present study addressed the role of ABCC6 in atherosclerosis using Ldlr(-/-) mice and pseudoxanthoma elasticum (PXE) …
ABCC6 deficiency promotes ectopic calcification; however, circumstantial evidence suggested that ABCC6 may also influence athe …
ABCC6 as a target in pseudoxanthoma elasticum.
Váradi A, Szabó Z, Pomozi V, de Boussac H, Fülöp K, Arányi T. Váradi A, et al. Curr Drug Targets. 2011 May;12(5):671-82. doi: 10.2174/138945011795378612. Curr Drug Targets. 2011. PMID: 21039331 Free PMC article. Review.
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. ...Though …
The ABCC6 gene encodes an organic anion transporter protein, ABCC6/MRP6. Mutations in the gene cause a rare, recessive genetic …
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
Moitra K, Garcia S, Jaldin M, Etoundi C, Cooper D, Roland A, Dixon P, Reyes S, Turan S, Terry S, Dean M. Moitra K, et al. Int J Mol Sci. 2017 Jul 11;18(7):1488. doi: 10.3390/ijms18071488. Int J Mol Sci. 2017. PMID: 28696355 Free PMC article. Review.
PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. ...
PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which …
647 results