Name

HIGAKI Katsumi

Affiliation

Organization for Research Initiative and Promotion , Research Initiative Center

Title

Associate Professor

Birthday

1970.08.

E-mail address

Research areas, keyword

Cell biology, Neurochemistry, Human genetics, Genetic neurodegerative diseases

Degree

• Life Sciences , Tottori University , Thesis , 2001.07

Acceptable Theme for Cooperative Research

• Development of novel pharmacological chaperone therapy for lysosomal storage diseases , low molecular compounds, chaperone, lysosomal storage diseases , Cooperative Research with Other Research Organization Including Private (industrial) Sectors , Cooperative Research

Research Achievement (Published Thesis)

• A case of galactosialidosis with a homozygous Q49R point mutation , 25. Matsumoto N, Gondo K, Kukita J, Higaki K, Paraguison RC, Nanba E , Brain Dev , vol.0 (0) (p.0) , 2008 , There is Review , The Multiple Authorship , English

• Novel _-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vivo chaperone treatment of her skin fibroblasts , Gucev ZS, Tasic V, Jancevska A, Zafrovski G, Kremensky I, Sinergiska I, Nanba E, Higaki K, Suzuki Y , Am J Med Genet , vol.0 (0) (p.0) , 2008 , There is Review , The Multiple Authorship , English

• Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis. , 22. Takamura A, Higaki K, Kajimaki K, Otsuka S, Ninomiya H, Matsuda J, Ohno K, Suzuki Y, Nanba E. , Biochem Biophys Res Commun , vol.0 (0) (p.0) , 2008 , There is Review , The Multiple Authorship , English

• Chemical chaperone therapy: Clinical effect in murineGM1-gangliosidosis. , 21. Suzuki Y, Ichinomiya S, Kurosawa M, Ohkubi H, Watanabe H, Iwasaki H, Matsuda J, Noguchi Y, Takimoto K, Itoh M, Tabe M, Iida M, Kubo T, Ogawa S, Nanba E, Higaki K, Ohno K, Brady RO , An Neurol , vol.0 (0) (p.0) , 2007 , There is Review , The Multiple Authorship , English

• The TSC1 gene product hamartin interacts with NADE. , 19. Yasui S., Tsuzaki K., Ninomiya H., Floricel F., Asano Y., Maki H., Takamura A., Nanba E., Higaki K., Ohno K , Mol. Cell. Neurosci , vol.0 (0) (p.0) , 2007 , There is Review , The Multiple Authorship , English

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Updated on 2025/08/20