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Page 1
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.
Fukuda T, Kohda M, Kanomata K, Nojima J, Nakamura A, Kamizono J, Noguchi Y, Iwakiri K, Kondo T, Kurose J, Endo K, Awakura T, Fukushi J, Nakashima Y, Chiyonobu T, Kawara A, Nishida Y, Wada I, Akita M, Komori T, Nakayama K, Nanba A, Maruki Y, Yoda T, Tomoda H, Yu PB, Shore EM, Kaplan FS, Miyazono K, Matsuoka M, Ikebuchi K, Ohtake A, Oda H, Jimi E, Owan I, Okazaki Y, Katagiri T. Fukuda T, et al. Among authors: ohtake a. J Biol Chem. 2009 Mar 13;284(11):7149-56. doi: 10.1074/jbc.M801681200. Epub 2008 Aug 6. J Biol Chem. 2009. PMID: 18684712 Free PMC article.
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, Jimi E, Komori T, Maruki Y, Matsuoka M, Miyazono K, Nakayama K, Nanba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Haga N, Furuya H, Katagiri T. Fukuda T, et al. Among authors: ohtake a. Biochem Biophys Res Commun. 2008 Dec 19;377(3):905-9. doi: 10.1016/j.bbrc.2008.10.093. Epub 2008 Oct 24. Biochem Biophys Res Commun. 2008. PMID: 18952055
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: ohtake a. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M. Komaki H, et al. Among authors: ohtake a. Biochim Biophys Acta. 2010 Mar;1800(3):313-5. doi: 10.1016/j.bbagen.2009.07.008. Epub 2009 Jul 17. Biochim Biophys Acta. 2010. PMID: 19616603
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, Jimi E, Maruki Y, Matsuoka M, Namba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Furuya H, Kamizono J, Kitoh H, Nakashima Y, Susami T, Haga N, Komori T, Katagiri T. Ohte S, et al. Among authors: ohtake a. Biochem Biophys Res Commun. 2011 Apr 1;407(1):213-8. doi: 10.1016/j.bbrc.2011.03.001. Epub 2011 Mar 4. Biochem Biophys Res Commun. 2011. PMID: 21377447
278 results