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The lysosomal protein ABCD4 can transport vitamin B(12) across liposomal membranes in vitro.
Kitai K, Kawaguchi K, Tomohiro T, Morita M, So T, Imanaka T. Kitai K, et al. J Biol Chem. 2021 Jan-Jun;296:100654. doi: 10.1016/j.jbc.2021.100654. Epub 2021 May 3. J Biol Chem. 2021. PMID: 33845046 Free PMC article.
Vitamin B(12) (cobalamin) is an essential micronutrient for human health, and mutation and dysregulation of cobalamin metabolism are associated with serious diseases, such as methylmalonic aciduria and homocystinuria. Mutations in ABCD4 or LMBRD1, which encode the ABC tran …
Vitamin B(12) (cobalamin) is an essential micronutrient for human health, and mutation and dysregulation of cobalamin metabolism are associa …
Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.
Serraz B, Grand T, Paoletti P. Serraz B, et al. Neuropharmacology. 2016 Oct;109:196-204. doi: 10.1016/j.neuropharm.2016.06.008. Epub 2016 Jun 7. Neuropharmacology. 2016. PMID: 27288002 Free article.
Surprisingly, both increase (GluN2A-R370W) and decrease (GluN2A-P79R) of zinc sensitivity were observed on receptors containing either one or two copies of the mutated subunits. ...
Surprisingly, both increase (GluN2A-R370W) and decrease (GluN2A-P79R) of zinc sensitivity were observed on receptors containing eithe …
ABCB4: Insights from pathobiology into therapy.
Falguières T, Aït-Slimane T, Housset C, Maurice M. Falguières T, et al. Clin Res Hepatol Gastroenterol. 2014 Oct;38(5):557-63. doi: 10.1016/j.clinre.2014.03.001. Epub 2014 Jun 19. Clin Res Hepatol Gastroenterol. 2014. PMID: 24953525 Review.
Adenosine triphosphate (ATP)-binding cassette, sub-family B, member 4 (ABCB4), also called multidrug resistance 3 (MDR3), is a member of the ATP-binding cassette transporter superfamily, which is
Adenosine triphosphate (ATP)-binding cassette, sub-family B, member 4 (ABCB4)
Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Kawaguchi K, Okamoto T, Morita M, Imanaka T. Kawaguchi K, et al. Sci Rep. 2016 Jul 26;6:30183. doi: 10.1038/srep30183. Sci Rep. 2016. PMID: 27456980 Free PMC article.
It was recently reported that mutations in ABCD4 result in a failure to release vitamin B12 from lysosomes. A similar phenotype is caused by mutations in LMBRD1, which encodes the lysosomal membrane protein LMBD1. These findings suggested to us that ABCD4 tra …
It was recently reported that mutations in ABCD4 result in a failure to release vitamin B12 from lysosomes. A similar phenotype is ca …
Analgesia and Opioids: A Pharmacogenetics Shortlist for Implementation in Clinical Practice.
Matic M, de Wildt SN, Tibboel D, van Schaik RHN. Matic M, et al. Clin Chem. 2017 Jul;63(7):1204-1213. doi: 10.1373/clinchem.2016.264986. Clin Chem. 2017. PMID: 28637770 Review.
From these genes, we evaluated the evidence and selected the most promising 10 markers: cytochrome P450 family 2 subfamily D member 6 (CYP2D6), cytochrome P450 family 3 subfamily A member 4 (CYP3A4), cytochrome P450 family 3 subfamily A m …
From these genes, we evaluated the evidence and selected the most promising 10 markers: cytochrome P450 family 2 subfamily D m …
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.
The integral membrane proteins LMBD1 and ABCD4 are required for lysosomal release of Cbl, and mutations in the genes LMBRD1 and ABCD4 result in the cobalamin metabolism disorders cblF and cblJ. ...Finally, we showed that ABCD4 lysosomal targeting depends on c …
The integral membrane proteins LMBD1 and ABCD4 are required for lysosomal release of Cbl, and mutations in the genes LMBRD1 and AB
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.
Hlaváč V, Václavíková R, Brynychová V, Koževnikovová R, Kopečková K, Vrána D, Gatěk J, Souček P. Hlaváč V, et al. Int J Mol Sci. 2020 Dec 15;21(24):9556. doi: 10.3390/ijms21249556. Int J Mol Sci. 2020. PMID: 33334016 Free PMC article.
Breast cancer is the most common cancer in women in the world. The role of germline genetic variability in ATP-binding cassette (ABC) transporters in cancer chemoresistance and prognosis still needs to be elucidated. ...Variants in ABCA4, ABCA9, ABCA12, ABCB5 …
Breast cancer is the most common cancer in women in the world. The role of germline genetic variability in ATP-binding cass
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
Addis L, Virdee JK, Vidler LR, Collier DA, Pal DK, Ursu D. Addis L, et al. Sci Rep. 2017 Feb 27;7(1):66. doi: 10.1038/s41598-017-00115-w. Sci Rep. 2017. PMID: 28242877 Free PMC article.
Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, cognitive and language disorders. ...These mutants, along with E714K, also showed significantly decreased total protein levels and traf …
Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, co …
Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
Delaunay JL, Elbahnsi A, Bruneau A, Madry C, Durand-Schneider AM, Stary A, Housset C, Gautheron J, Callebaut I, Aït-Slimane T. Delaunay JL, et al. Int J Mol Sci. 2023 Jan 8;24(2):1236. doi: 10.3390/ijms24021236. Int J Mol Sci. 2023. PMID: 36674751 Free PMC article.
ABCB4 (ATP-binding cassette subfamily B member 4) is a hepatocanalicular floppase involved in biliary phosphatidylcholine (PC) secretion. ...Our results provide evidence that functional ABCB4 mutations are rescued by ivacaftor, paving the …
ABCB4 (ATP-binding cassette subfamily B member 4) is a hepatocanalicular floppase involved in bili …
Gene expression profile of ABC transporters and cytotoxic effect of ibuprofen and acetaminophen in an epithelial ovarian cancer cell line in vitro.
Lima RA, Cândido EB, de Melo FP, Piedade JB, Vidigal PV, Silva LM, da Silva Filho AL. Lima RA, et al. Rev Bras Ginecol Obstet. 2015 Jun;37(6):283-90. doi: 10.1590/SO100-720320150005292. Rev Bras Ginecol Obstet. 2015. PMID: 26200827
TOV-21 G cells had a reduced expression of the genes ABCA1, ABCC3, ABCC4, ABCD3, ABCD4 and ABCE1 within the ABC transporter superfamily. CONCLUSIONS: This study provides in vitro evidence of inhibitory effects of growth in therapeutic concentrations of acetaminophen and ib …
TOV-21 G cells had a reduced expression of the genes ABCA1, ABCC3, ABCC4, ABCD3, ABCD4 and ABCE1 within the ABC transporter superfami …
17 results