Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Xiang-qian Song"'
Autor:
Tadao Orii, Toshiyuki Fukao, Hiroh Watanebe, Tomiko Kuhara, Xiang-Qian Song, Noriyuki Aoyanagi, Ryuichi Tsukino, Naomi Kondo, Shigeru Uemura, Akihiko Kodama, Isamu Matsumoto
Publikováno v:
Clinical Genetics. 50:263-266
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglyc
Autor:
Magdalena Ugarte, Yasuhiro Naiki, Kozue Nakamura, Yoshinori Kohno, Cristobal Luque, Naomi Kondo, Xiang-Qian Song, Toshiyuki Fukao, Celia Pérez-Cerdá
Publikováno v:
Molecular Genetics and Metabolism. 72:115-121
Most mutation-related aberrant splicing occurs in the conserved splice-acceptor and -donor sites and some exonic mutations also affect splicing. We identified and characterized a point mutation (380C>T) in a Spanish patient (GK25) with mitochondrial
Autor:
Haruki Nakamura, Ronald J.A. Wanders, Naomi Kondo, Sacha Kassovska-Bratinova, Grant A. Mitchell, G. T. N. Besley, Kenji E. Orii, Toshiyuki Fukao, K. E. Niezen-Koning, James E. Wraith, Gerard T. Berry, Xiang-Qian Song, Michael J. Palmieri
Publikováno v:
Genomics, 68(2), 144-151. Academic Press Inc.
GENOMICS, 68(2), 144-151. ACADEMIC PRESS INC ELSEVIER SCIENCE
GENOMICS, 68(2), 144-151. ACADEMIC PRESS INC ELSEVIER SCIENCE
The activity of succinyl-CoA:3-ketoacid CoA transferase (SCOT; locus symbol OXCT; EC 2.8.3.5) is the main determinant of the ketolytic capacity of tissues. Hereditary SCOT deficiency causes episodic ketoacidosis. Here we describe the human SCOT gene,
Autor:
Toshiyuki Fukao, Ronald J.A. Wanders, Naomi Kondo, Sacha Kassovska-Bratinova, Haruo Shintaku, Ken Hirayama, Xiang-Qian Song, Tadao Orii, Grant A. Mitchell, Magdalena Ugarte, Perry Churchill, Hiroh Watanabe
Publikováno v:
Biochimica et Biophysica Acta, 1360, 151-156
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) is a key enzyme for ketone body utilization. Hereditary SCOT deficiency in humans (McKusick catalogue number 245050) is characterized by intermittent ketoacidotic attacks and permanent hyperketonemia. Si
Autor:
Naomi Kondo, Hisahide Nishio, Koji Isogai, Nobuyuki Shimozawa, Toshiyuki Fukao, Shunji Tomatsu, Seiji Fukuda, Mitsuo Masuno, Xiang-Qian Song, Kazuko Sukegawa, Masafumi Matsuo, Tadao Orii
Publikováno v:
Human Mutation. 10:361-367
Hunter disease is an X-linked recessive mucopolysaccharide storage disorder caused by iduronate-2-sulfatase deficiency and is rare in females. We describe here findings in a girl with Hunter disease of the severe type. She had a normal karyotype but
Autor:
Takashi Hashimoto, Xiang-Qian Song, Toshiyuki Fukao, S. Miyazawa, Seiji Yamaguchi, Tadao Orii
Publikováno v:
Biochemical and Biophysical Research Communications. 201:478-485
Complementary DNA for human cytosolic acetoacetyl-CoA thiolase (CT) was cloned with the use of anti-[human CT] antibody. The human CT cDNA clone (HCT10) has a 1479-bp insert and a 1191-base open reading frame encoding 397 amino acid residues. Partial
Publikováno v:
The Tohoku journal of experimental medicine. 215(3)
The human succinyl-CoA: 3-ketoacid CoA transferase (SCOT) gene encodes the ketolytic enzyme that functions in the mitochondrial matrix. The activation of acetoacetate to acetoacetyl-CoA by SCOT is essential for the use of ketone bodies as an energy s
Autor:
Takashi Hashimoto, Xiang-Qian Song, Claude Bachmann, Seiji Yamaguchi, Toshiyuki Fukao, Tadao Orii, Jean-Marie Matthieu, Naomi Kondo
Publikováno v:
Human Mutation. 9:277-279
Autor:
Min Yu, Yuqi Zhao, Robert T. Elder, June Yang, Bin Wang, Nitin K. Saksena, Xiang-qian Song, Mingzhong Chen
Publikováno v:
Virus research. 89(1)
Increasing evidence suggests that HIV-1 Vpr is required in vivo for viral pathogenesis. Since Vpr displays multiple activities, little is known about which Vpr-specific activities are conserved in naturally occurring viruses or how natural mutations
Autor:
Mingzhong Chen, Xiang-qian Song, Robert T. Elder, Howard B. Lieberman, Yuqi Zhao, Kevin M. Hopkins
A functional homolog (rhp23) of human HHR23A and Saccharomyces cerevisiae RAD23 was cloned from the fission yeast Schizosaccharomyces pombe and characterized. Consistent with the role of Rad23 homologs in nucleotide excision repair, rhp23 mutant cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8111623c687d0819ce3a292a804388
https://europepmc.org/articles/PMC99819/
https://europepmc.org/articles/PMC99819/