Toshiyuki Fukao

Overview

Best Publications

• Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.

  Toshiyuki Fukao;Gary D. Lopaschuk;Grant A. Mitchell

  455
  Citations

• Ketone body metabolism and its defects

  Toshiyuki Fukao;Grant Mitchell;Jörn Oliver Sass;Tomohiro Hori

  243
  Citations

• Reduced interferon gamma production by antigen-stimulated cord blood mononuclear cells is a risk factor of allergic disorders--6-year follow-up study.

  N Kondo;Y Kobayashi;S Shinoda;R Takenaka

  220
  Citations

• Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.

  Fukao T;Song Xq;Mitchell Ga;Yamaguchi S

  202
  Citations

• Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

  Shunji Tomatsu;Seiji Fukuda;Michiya Masue;Kazuko Sukegawa

  189
  Citations

• Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM.

  Heather Beamish;Padmini Kedar;Hideo Kaneko;Philip Chen

  154
  Citations

• Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.

  M. J. MacDonald;M. J. Longacre;E.-C. Langberg;A. Tibell

  141
  Citations

• Crystallographic and Kinetic Studies of Human Mitochondrial Acetoacetyl-CoA Thiolase: The Importance of Potassium and Chloride Ions for Its Structure and Function

  Antti M Haapalainen;Gitte Meriläinen;Päivi L Pirilä;Naomi Kondo

  134
  Citations

• Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

  Yuichi Mushimoto;Seiji Fukuda;Yuki Hasegawa;Hironori Kobayashi

  130
  Citations

• Differences between human and rodent pancreatic islets: low pyruvate carboxylase, atp citrate lyase, and pyruvate carboxylation and high glucose-stimulated acetoacetate in human pancreatic islets.

  Michael J. MacDonald;Melissa J. Longacre;Scott W. Stoker;Mindy A. Kendrick

  129
  Citations

• Succinyl-CoA: 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

  Toshiyuki Fukao;Grant A. Mitchell;Xiang-Qian Song;Haruki Nakamura

  127
  Citations

• The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.

  Toshiyuki Fukao;Charles R. Scriver;Naomi Kondo

  123
  Citations

• Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

  Naoaki Shibata;Yuki Hasegawa;Kenji Yamada;Hironori Kobayashi

  122
  Citations

• Propranolol for Intractable Diffuse Lymphangiomatosis

  Michio Ozeki;Toshiyuki Fukao;Naomi Kondo

  122
  Citations

• Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham–Stout Disease

  Michio Ozeki;Akihiro Fujino;Kentaro Matsuoka;Shunsuke Nosaka

  121
  Citations

• Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

  Tomonori Kadowaki;Hidenori Ohnishi;Norio Kawamoto;Tomohiro Hori

  113
  Citations

• Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

  Kazuko Sukegawa;Haruki Nakamura;Zenichiro Kato;Shunji Tomatsu

  105
  Citations

• Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

  S. Gobin‐Limballe;F. Djouadi;F. Aubey;S. Olpin

  98
  Citations

• Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II

  Francyne Kubaski;Francyne Kubaski;Hiromasa Yabe;Yasuyuki Suzuki;Toshiyuki Seto

  95
  Citations

• Propranolol as an alternative treatment option for pediatric lymphatic malformation.

  Michio Ozeki;Kaori Kanda;Norio Kawamoto;Hidenori Ohnishi

  95
  Citations