2011 Fiscal Year Final Research Report
Development of new medication against proximal renal tubular acidosis
| Project/Area Number |
21591051
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | The University of Tokyo |
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Principal Investigator |
SEKI George 東京大学, 医学部附属病院, 講師 (30206619)
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| Co-Investigator(Kenkyū-buntansha) |
YAMADA Hideomi 東京大学, 医学部附属病院, 助教 (60396752)
HORITA Shoko 東京大学, 医学部附属病院, 助教 (20534895)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 近位尿細管性アシドーシス / NBCe1 |
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| Research Abstract |
Hereditary proximal renal tubular acidosis by NBCe1 mutations is a difficult-to-treat disease with severe acidemia, ocular abnormalities, and stunted growth. Because a premature stop-codon NBCe1 mutation W516X was recently identified, we produced mice carrying this mutation. W516X knock-in homo mice showed severe acidemia, ocular abnormalities, and stunted growth like human patients. They may be useful for the evaluation of new molecular therapy for proximal renal tubular acidosis. We also found that defective membrane expression of NBCe1 is associated with migraine.
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[Journal Article] Thiazolidinediones enhance sodium-coupled bicarbonate absorption from renal proximal tubules via PPARγ-dependent non-genomic signaling2011
Author(s)
Endo Y, Suzuki M, Yamada H, Horita S, Kunimi M, Yamazaki O, Shirai A, Nakamura M, Iso-O N, Li Y, Hara M, Tsukamoto K, Moriyama N, Kudo A, Kawakami H, Yamauchi T, Kubota N, Kadowaki T, Kume H, Enomoto Y, Homma Y, Seki G, Fujita T
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Journal Title
Cell Metab
Volume: 13
Pages: 550-561
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[Journal Article] Severe Metabolic Acidosis Causes Early Lethality in NBC1 W516X Knock-in Mice as a Model of Human Isolated Proximal Renal Tubular Acidosis2011
Author(s)
Lo Y, BS, Yang S, Seki G, Yamada H, Horita S, Yamazaki O, Fujita T, MD, Usui T, Tsai J, Yu I, PhD, Lin S, Lin S
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Journal Title
Kidney Int
Volume: 79
Pages: 730-741
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[Journal Article] Defective membrane expression of the Na^+-HCO<3-> cotransporter NBCe1 is associated with familial migraine2010
Author(s)
Suzuki M, Paesschen WV, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, Jonghe PD, Li Y, Sekine T, Igarashi T, Fujimoto I, KMikoshiba M, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita Y, Seki G
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Journal Title
Proc Natl AcadSci USA
Volume: 107
Pages: 15963-15968
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[Book] Gene Mutation2012
Author(s)
Seki G, Horita S, Suzuki M, Yamazaki O, Yamada H.
Total Pages
ISBN980-953-307-125-6
Publisher
Pathophysiological roles ofmutations in the electrogenic Na^+-HCO<3-> cotransporter NBCe1
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