School personnel information

写真b

MURAKAMI Yoshiko


Organization 【 display / non-display

  • 1998.04.01 - 2005.06.30, Research Institute for Microbial Diseases, Educational Support Staff

  • 2005.07.01 - 2007.03.31, Research Institute for Microbial Diseases, Research Assistant

  • 2007.04.01 - 2008.12.31, Research Institute for Microbial Diseases, Assistant Professor

  • 2009.01.01 - 2017.03.31, Research Institute for Microbial Diseases, Associate Professor

  • 2017.04.01 - , Research Institute for Microbial Diseases, Professor

Education 【 display / non-display

Osaka University Faculty of Medicine  Graduated 1984.03
Osaka University   Completed 2001.02
 

Academic Papers 【 display / non-display

  • PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins., Lee GH, Fujita M, Nakanishi H, Miyata H, Ikawa M, Maeda Y, Murakami Y, Kinoshita T, The Journal of biological chemistry, 2020.08, Papers

  • <i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features., Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L, Journal of medical genetics, 2020.05, Papers

  • Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy., Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM, American journal of human genetics, 2020.03, Papers

  • Cross-talks of glycosylphosphatidylinositol biosynthesis with glycosphingolipid biosynthesis and ER-associated degradation., Wang Y, Maeda Y, Liu YS, Takada Y, Ninomiya A, Hirata T, Fujita M, Murakami Y, Kinoshita T, Nature communications,11(1) 860, 2020.02, Papers

  • A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder., Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Mai Nguyen TT, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PN, Mabry CC, European journal of medical genetics, 103822, 2019.12, Papers

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Awards 【 display / non-display

  • Incentive Award for English Presentation, The Japanese Society of Child Neurology, Yoshiko Murakami, The Japanese Society of Child Neutology, 2017.06