| Cryo-EM structure of cadmium-bound human ABCB6. | Cryo-EM structure of cadmium-bound human ABCB6.
Choi SH, Lee SS, Lee HY, Kim S, Kim JW, Jin MS., Free PMC Article | 07/5/2024 |
| Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy. | Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.
Singh H, Shyamveer, Mahajan SD, Aalinkeel R, Kaliyappan K, Schwartz SA, Bhattacharya M, Parvez MK, Al-Dosari MS. | 03/18/2024 |
| W546 stacking disruption traps the human porphyrin transporter ABCB6 in an outward-facing transient state. | W546 stacking disruption traps the human porphyrin transporter ABCB6 in an outward-facing transient state.
Lee SS, Park JG, Jang E, Choi SH, Kim S, Kim JW, Jin MS., Free PMC Article | 09/27/2023 |
| Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma. | Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma.
Shibahara M, Kurita T, Murakami M, Harada H, Koi C, Izumi H, Yoshino K. | 08/4/2023 |
| ABCB6 knockdown suppresses melanogenesis through the GSK3-beta/beta-catenin signaling axis in human melanoma and melanocyte cell lines. | ABCB6 knockdown suppresses melanogenesis through the GSK3-β/β-catenin signaling axis in human melanoma and melanocyte cell lines.
She Q, Dong Y, Li D, An R, Zhou T, Nie X, Pan R, Deng Y. | 06/18/2022 |
| ABCB6 polymorphisms are not overly represented in patients with porphyria. | ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD., Free PMC Article | 04/23/2022 |
| Substrate specificity of Chondroitinase ABC I based on analyses of biochemical reactions and crystal structures in complex with disaccharides. | Substrate specificity of Chondroitinase ABC I based on analyses of biochemical reactions and crystal structures in complex with disaccharides.
Takashima M, Watanabe I, Miyanaga A, Eguchi T., Free PMC Article | 03/19/2022 |
| UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6. | UBE2L6 is Involved in Cisplatin Resistance by Regulating the Transcription of ABCB6.
Murakami M, Izumi H, Kurita T, Koi C, Morimoto Y, Yoshino K. | 06/5/2021 |
| Cryo-electron microscopy structure of human ABCB6 transporter. | Cryo-electron microscopy structure of human ABCB6 transporter.
Wang C, Cao C, Wang N, Wang X, Wang X, Zhang XC., Free PMC Article | 02/6/2021 |
| Systematic analysis of the ABC transporter family in hepatocellular carcinoma reveals the importance of ABCB6 in regulating ferroptosis. | Systematic analysis of the ABC transporter family in hepatocellular carcinoma reveals the importance of ABCB6 in regulating ferroptosis.
Zhang J, Zhang X, Li J, Song Z. | 09/19/2020 |
| Investigated whether 9 SNPs in ABCB1 (rs6946119, rs28401781, rs4148739, and rs3747802), ABCB6 (rs1109866, rs1109867, rs3731885, and rs3755047), and ABCG1 (rs182694); findings support an association between ABCG1 polymorphism and schizophrenia in a Han Chinese population; no association between schizophrenia and a specific allele or genotype among the SNPs of ABCB1 and ABCB6 was observed | A Case-Control Study of ABCB1, ABCB6, and ABCG1 Polymorphisms and Schizophrenia in a Han Chinese Population.
Ma G, Huang X, Bi Y, Xu F, Niu W, Ren D, Sun Q, Guo Z, Yuan R, Yuan F, Wu X, Yang F, Wang L, Li W, He L, Yu T, Li X, Liu J, He G. | 02/15/2020 |
| The human ABCB6 protein is the functional homologue of HMT-1 proteins mediating cadmium detoxification in Schizosaccharomyces pombe and Caenorhabditis elegans. | The human ABCB6 protein is the functional homologue of HMT-1 proteins mediating cadmium detoxification.
Rakvács Z, Kucsma N, Gera M, Igriczi B, Kiss K, Barna J, Kovács D, Vellai T, Bencs L, Reisecker JM, Szoboszlai N, Szakács G., Free PMC Article | 10/19/2019 |
| Severely affected porphyria patients harbor variant alleles in the ABCB6 gene. | The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y, Cheong PL, Lynch J, Brighton C, Frase S, Kargas V, Rampersaud E, Wang Y, Sankaran VG, Yu B, Ney PA, Weiss MJ, Vogel P, Bond PJ, Ford RC, Trent RJ, Schuetz JD., Free PMC Article | 09/8/2018 |
| ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux. | Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.
Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A., Free PMC Article | 07/8/2017 |
| genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought. | Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
Koszarska M, Kucsma N, Kiss K, Varady G, Gera M, Antalffy G, Andrikovics H, Tordai A, Studzian M, Strapagiel D, Pulaski L, Tani Y, Sarkadi B, Szakacs G., Free PMC Article | 01/2/2016 |
| These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions. | Effects of plasma membrane ABCB6 on 5-aminolevulinic acid (ALA)-induced porphyrin accumulation in vitro: tumor cell response to hypoxia.
Matsumoto K, Hagiya Y, Endo Y, Nakajima M, Ishizuka M, Tanaka T, Ogura S. | 12/12/2015 |
| Identified two novel ABCB6 mutations in two Chinese families affected with dyschromatosis universalis hereditaria (DUH), underscoring the causative role of the ABCB6 mutations in the molecular pathogenesis of DUH. | Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
Lu C, Liu J, Liu F, Liu Y, Ma D, Zhang X. | 08/8/2015 |
| Data suggest N-terminal transmembrane domain of ABCB6 functions as independent folding unit and plays crucial role in lysosomal (rather than plasma membrane) targeting of ABCB6; this domain is dispensable for dimerization and ATP binding/hydrolysis. | Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein.
Kiss K, Kucsma N, Brozik A, Tusnady GE, Bergam P, van Niel G, Szakacs G., Free PMC Article | 05/30/2015 |
| a heterozygous substitution Arg723Gln in the ATP-binding cassette, Subfamily B, Member 6 protein that segregated with FP in the Cardiff family and was also present in both blood donors. Arg723Gln is listed in human variation databases | Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
Bawazir WM, Flatt JF, Wallis JP, Rendon A, Cardigan RA, New HV, Wiltshire M, Page L, Chapman CE, Stewart GW, Bruce LJ. | 02/14/2015 |
| Data indicate ATP-binding cassette sub-family B member 6 (ABCB6) as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the dyschromatosis universalis hereditaria phenotype. | Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Liu J, Zhang F., Free PMC Article | 12/6/2014 |
| Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine. | Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.
Minami K, Kamijo Y, Nishizawa Y, Tabata S, Horikuchi F, Yamamoto M, Kawahara K, Shinsato Y, Tachiwada T, Chen ZS, Tsujikawa K, Nakagawa M, Seki N, Akiyama S, Arima K, Takeda Y, Furukawa T. | 11/22/2014 |
| We describe eight new mutations in ABCB6 of which seven, including three missense mutations, underlie the Lan- phenotype and determine that a complete gene deletion of ABCG2 or ABCB6 is not responsible for the Jr(a-) or Lan- phenotype, respectively. | Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.
Haer-Wigman L, Ait Soussan A, Ligthart P, de Haas M, van der Schoot CE. | 10/4/2014 |
| High expression levels of ABCB6 are associated with glioma. | Increased expression of ABCB6 enhances protoporphyrin IX accumulation and photodynamic effect in human glioma.
Zhao SG, Chen XF, Wang LG, Yang G, Han DY, Teng L, Yang MC, Wang DY, Shi C, Liu YH, Zheng BJ, Shi CB, Gao X, Rainov NG. | 06/28/2014 |
| data add new variants to the repertoire of ABCB6 mutations with dyschromatosis universalis hereditaria. | Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ., Free PMC Article | 06/21/2014 |
| No significant associations were detected for the ABCB6 or ABCG1 gene. | ABCB6, ABCB1 and ABCG1 genetic polymorphisms and antidepressant response of SSRIs in Chinese depressive patients.
Huang X, Yu T, Li X, Cao Y, Li X, Liu B, Yang F, Li W, Zhao X, Feng G, Zhang X, Dong Z, He L, Sun X, He G. | 05/31/2014 |