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Last Name
Institution

Makiko Yasuda

TitleASSISTANT PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
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     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013; 19:26-35.
      View in: PubMed
    2. Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Aug 15; 879(24):2389-96.
      View in: PubMed
    3. Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther. 2010 Jan; 18(1):17-22.
      View in: PubMed
    4. Yasuda M, Domaradzki ME, Armentano D, Cheng SH, Bishop DF, Desnick RJ. Acute intermittent porphyria: vector optimization for gene therapy. J Gene Med. 2007 Sep; 9(9):806-11.
      View in: PubMed
    5. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul; 79(1):31-40.
      View in: PubMed
    6. Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics. 2006 Mar; 2(5):297-309.
      View in: PubMed
    7. Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Am J Hum Genet. 2006 Apr; 78(4):645-58.
      View in: PubMed
    8. Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat. 2003 Dec; 22(6):486-92.
      View in: PubMed
    9. Yasuda M, Shabbeer J, Osawa M, Desnick RJ. Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. Am J Hum Genet. 2003 Jul; 73(1):162-73.
      View in: PubMed
    10. Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol Genet Metab. 2002 May; 76(1):23-30.
      View in: PubMed
    11. Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet. 2001; 46(4):192-6.
      View in: PubMed
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    Mount Sinai Profiles is managed by Conduits - The Institutes for Translational Sciences at Icahn School of Medicine, supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health through Grant Number UL1TR000067