Kazuki Ohno

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

Motomichi Kosuga, Ryuichi Mashima, Asami Hirakiyama et al. · Molecular Genetics and Metabolism · 2016 · 74 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +10

Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis

Kazuhiko Matsuoka, Tomomi Tamura, Daisuke Tsuji et al. · Molecular Therapy · 2011 · 67 citations · Full text

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

Seiji Saito, Kazuki Ohno, Hitoshi Sakuraba · Journal of Human Genetics · 2011 · 66 citations · Full text

Fabry Disease, Mendelian Disorder, Genetics +6

Structural basis for telmisartan-mediated partial activation of PPAR gamma

Y. Amano, Tomohiko Yamaguchi, Kazuki Ohno et al. · Hypertension Research · 2012 · 57 citations · Full text

Molecular Pharmacology, Molecular Physiology, Signal Transduction +10

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

Mohammad Arif Hossain, Takanobu Otomo, Seiji Saito et al. · Gene · 2013 · 56 citations

Genetics, Pathogenesis, Effective Processing +5