Mizumoto, Shuji

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 156

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137

Human genetic disorders and knockout mice deficient in glycosaminoglycan

Mizumoto, S., Yamada, S., & Sugahara, K. (2014) · BioMed Research International

Proteoglycans and glycosaminoglycans researchLysosomal Storage Disorders Research

Cited by 54

Hyaluronan degradation and release of a hyaluronan-aggrecan complex from perineuronal nets in the aged mouse brain

Sugitani, K., Egorova, D., Mizumoto, S., Nishio, S., Yamada, S., Kitagawa, H., Oshima, K., Nadano, D., Matsuda, T., & Miyata, S. (2021) · Biochimica et Biophysica Acta (BBA) - General Subjects

Proteoglycans and glycosaminoglycans researchNeuroscience and Neuropharmacology Research

Cited by 28

Carbohydrate (N-Acetylgalactosamine 4-O) Sulfotransferase 14 (CHST14)

Kosho, T., Mizumoto, S., & Sugahara, K. (2014) · Handbook of Glycosyltransferases and Related Genes

Proteoglycans and glycosaminoglycans researchLysosomal Storage Disorders Research

Cited by 6