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Defective membrane expression of the Na+-HCO3- cotransporter NBCe1 is associated with familial migraine

Defective membrane expression of the Na+-HCO3- cotransporter NBCe1 is associated with familial migraine,10.1073/pnas.1008705107,Proceedings of The Nat

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Defective membrane expression of the Na+-HCO3- cotransporter NBCe1 is associated with familial migraine   (Citations: 6)
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M. Suzuki, W. van Paesschen, I. Stalmans, S. Horita, H. Yamada, B. A. Bergmans, E. Legius, F. Riant, P. de Jonghe, Y. Li, T. Sekine, T. Igarashihttp://academic.research.microsoft.com/io.ashx?type=5&id=15190746&selfId1=0&selfId2=0&maxNumber=12&query=
Journal: Proceedings of The National Academy of Sciences - PNAS , vol. 107, no. 35, pp. 15963-15968, 2010
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    • ... Mutations in the SLC4A4 gene encoding the sodium-bicarbonate cotransporter NBCe1, have recently been implicated in several different forms of migrain...

    Isabelle Andres-Enguix, et al. Functional analysis of missense variants in the TRESK (KCNK18) K+ chan...

    • ...This study determined that homozygotes for any of five different mutations in this gene suffered either hemiplegic migraine, MA or MO depending on the particular mutation (Suzuki et al. 2010)...

    Bridget H. Maher, et al. Identification of molecular genetic factors that influence migraine

    • ...15, ...

    Yi-Fen Lo, et al. Severe metabolic acidosis causes early lethality in NBC1 W516X knock-i...

    • ...Moreover, the NBCe1B mutants, corresponding to R510H, L522P, R881C, and S982NfsX4 mutations in NBCe1A, showed almost no transport activities due to defective membrane expression in human embryonic kidney (HEK293) cells, which seems to be linked to the occurrence of migraine through the near total inactivation of NBCe1 activity in astrocytes [40]...
    • ...Cell pH measurements were performed with a microscopic fluorescence photometry system (OSP-10; Olympus) as described [40]...
    • ...dependent cell pH recovery as described [40]...
    • ...(dpHi/dt) represents the NBCe1A activity [40]...
    • ...After incubation in a blocking buffer, the membrane was treated with a diluted rabbit polyclonal anti-GFP antibody (Invitrogen) or a rabbit polyclonal anti-Na/K pump α1 antibody (Upstate Biotech) as described [40]...
    • ...The cells were fixed in 4% paraformaldehyde in PBS, permeabilized with 0.1% Triton X-100 (Sigma) in PBS, stained with the F-actin dye tetramethylrhodamine isothiocyanate-phalloidin (Sigma), and observed by a TCS SL laser-scanning confocal microscope (Leica) as described [39, 40]...
    • ...Furthermore, the previous studies suggested that the Xenopus oocytes expression system may not be ideal for the detection of trafficking abnormalities of NBCe1 mutants [16, 39, 40]...
    • ...We next performed the functional analysis in HEK293 cells, which have been widely used to examine the transport function of NBCe1 [4, 24, 40, 45]...
    • ...As shown in Fig. 6a, cells transfected vector alone did not show cell pH recovery upon Na + addition as previously reported [40]...
    • ...Consistent with the previous reports [4, 24, 40, 45], our functional analysis in HEK293 cells confirmed the absolute dependence of NBCe1 activity on Na + . On the other hand, we observed a small transport activity of NBCe1A even in the absence of HCO3 � /CO2, which corresponds to only 11% of the NBCe1A activity in the presence of HCO3 � /CO2 .A t...
    • ...However, heterozygous human mutations in NBCe1 have not been linked to pRTA, probably due to much higher compensatory ability of renal distal tubules in humans [40]...
    • ...We have recently shown that the heterozygous S982NfsX4 mutation, which retains in the endoplasmic reticulum, causes migraine and normal-tension glaucoma through the hetero-oligomer formation with wild-type NBCe1 [40]...

    Osamu Yamazaki, et al. Functional characterization of nonsynonymous single nucleotide polymor...

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