225 related articles for article (PubMed ID: 27994049)
1. Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum.
Ran Y; Thibodeau PH
J Biol Chem; 2017 Feb; 292(5):1559-1572. PubMed ID: 27994049
[TBL] [Abstract][Full Text] [Related]
2. Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.
Ran Y; Zheng A; Thibodeau PH
J Biol Chem; 2018 Oct; 293(41):15855-15866. PubMed ID: 30154241
[TBL] [Abstract][Full Text] [Related]
3. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
Iliás A; Urbán Z; Seidl TL; Le Saux O; Sinkó E; Boyd CD; Sarkadi B; Váradi A
J Biol Chem; 2002 May; 277(19):16860-7. PubMed ID: 11880368
[TBL] [Abstract][Full Text] [Related]
4. Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6.
Fülöp K; Barna L; Symmons O; Závodszky P; Váradi A
Biochem Biophys Res Commun; 2009 Feb; 379(3):706-9. PubMed ID: 19133228
[TBL] [Abstract][Full Text] [Related]
5. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
Pomozi V; Brampton C; Fülöp K; Chen LH; Apana A; Li Q; Uitto J; Le Saux O; Váradi A
J Invest Dermatol; 2014 Apr; 134(4):946-953. PubMed ID: 24352041
[TBL] [Abstract][Full Text] [Related]
6. ABCC6 as a target in pseudoxanthoma elasticum.
Váradi A; Szabó Z; Pomozi V; de Boussac H; Fülöp K; Arányi T
Curr Drug Targets; 2011 May; 12(5):671-82. PubMed ID: 21039331
[TBL] [Abstract][Full Text] [Related]
7. Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.
Ibold B; Faust I; Tiemann J; Gorgels TGMF; Bergen AAB; Knabbe C; Hendig D
Lipids Health Dis; 2019 Jan; 18(1):2. PubMed ID: 30611276
[TBL] [Abstract][Full Text] [Related]
8. Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6
Pomozi V; Brampton C; Szeri F; Dedinszki D; Kozák E; van de Wetering K; Hopkins H; Martin L; Váradi A; Le Saux O
J Invest Dermatol; 2017 Mar; 137(3):595-602. PubMed ID: 27826008
[TBL] [Abstract][Full Text] [Related]
9. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Kowal L; Huang J; Luo H; Singh J; Snook AE; Uitto J; Li Q
J Invest Dermatol; 2022 Apr; 142(4):1085-1093. PubMed ID: 34597610
[TBL] [Abstract][Full Text] [Related]
10. New insights into the roles of the N-terminal region of the ABCC6 transporter.
Miglionico R; Gerbino A; Ostuni A; Armentano MF; Monné M; Carmosino M; Bisaccia F
J Bioenerg Biomembr; 2016 Jun; 48(3):259-67. PubMed ID: 26942607
[TBL] [Abstract][Full Text] [Related]
11. Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
Jin L; Jiang Q; Wu Z; Shao C; Zhou Y; Yang L; Uitto J; Wang G
J Invest Dermatol; 2015 May; 135(5):1294-1302. PubMed ID: 25615550
[TBL] [Abstract][Full Text] [Related]
12. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
Hu X; Plomp AS; van Soest S; Wijnholds J; de Jong PT; Bergen AA
Surv Ophthalmol; 2003; 48(4):424-38. PubMed ID: 12850230
[TBL] [Abstract][Full Text] [Related]
13. Regulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequence.
Xue P; Crum CM; Thibodeau PH
PLoS One; 2014; 9(5):e97360. PubMed ID: 24840500
[TBL] [Abstract][Full Text] [Related]
14. Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum.
Kauffenstein G; Pizard A; Le Corre Y; Vessières E; Grimaud L; Toutain B; Labat C; Mauras Y; Gorgels TG; Bergen AA; Le Saux O; Lacolley P; Lefthériotis G; Henrion D; Martin L
Arterioscler Thromb Vasc Biol; 2014 May; 34(5):1045-56. PubMed ID: 24675664
[TBL] [Abstract][Full Text] [Related]
15. Pseudoxanthoma elasticum.
Ohtani T; Furukawa F
J Dermatol; 2002 Oct; 29(10):615-20. PubMed ID: 12432991
[TBL] [Abstract][Full Text] [Related]
16. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O; Beck K; Sachsinger C; Silvestri C; Treiber C; Göring HH; Johnson EW; De Paepe A; Pope FM; Pasquali-Ronchetti I; Bercovitch L; Marais AS; Viljoen DL; Terry SF; Boyd CD
Am J Hum Genet; 2001 Oct; 69(4):749-64. PubMed ID: 11536079
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V; Hendig D; Henjakovic M; Szliska C; Kleesiek K; Götting C
Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894
[TBL] [Abstract][Full Text] [Related]
18. From membrane to mineralization: the curious case of the ABCC6 transporter.
Verschuere S; Van Gils M; Nollet L; Vanakker OM
FEBS Lett; 2020 Dec; 594(23):4109-4133. PubMed ID: 33131056
[TBL] [Abstract][Full Text] [Related]
19. 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
Int J Mol Sci; 2017 Sep; 18(9):. PubMed ID: 28891970
[TBL] [Abstract][Full Text] [Related]
20. Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.
Bisaccia F; Koshal P; Abruzzese V; Castiglione Morelli MA; Ostuni A
Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33799762
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]