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Your search keyword '"Shimozawa, Nobuyuki"' showing total 9 results
Start Over Author "Shimozawa, Nobuyuki" Journal the american journal of human genetics
9 results on '"Shimozawa, Nobuyuki"'

2. A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Author

Raas-Rothschild, Annick, primary, Wanders, Ronald J.A., additional, Mooijer, Petra A.W., additional, Gootjes, Jeannette, additional, Waterham, Hans R., additional, Gutman, Alisa, additional, Suzuki, Yasuyuki, additional, Shimozawa, Nobuyuki, additional, Kondo, Naomi, additional, Eshel, Gideon, additional, Espeel, Marc, additional, Roels, Frank, additional, and Korman, Stanley H., additional

Published
2002
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4. Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts

Author

Shimozawa, Nobuyuki, primary, Suzuki, Yasuyuki, additional, Zhang, Zhongyi, additional, Imamura, Atsushi, additional, Kondo, Naomi, additional, Kinoshita, Naohiko, additional, Fujiki, Yukio, additional, Tsukamoto, Toshiro, additional, Osumi, Takashi, additional, Imanaka, Tsuneo, additional, Orii, Tadao, additional, Beemer, Frits, additional, Mooijer, Petra, additional, Dekker, Conny, additional, and Wanders, Ronald J.A., additional

Published
1998
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7. d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Author

Suzuki, Yasuyuki, primary, Jiang, Ling Ling, additional, Souri, Masayoshi, additional, Miyazawa, Shoko, additional, Fukuda, Seiji, additional, Zhang, Zhongyi, additional, Une, Mizuho, additional, Shimozawa, Nobuyuki, additional, Kondo, Naomi, additional, Orii, Tadao, additional, and Hashimoto, Takashi, additional

Published
1997
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8. Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D

Author

Honsho, Masanori, Tamura, Shigehiko, Shimozawa, Nobuyuki, Suzuki, Yasuyuki, Kondo, Naomi, and Fujiki, Yukio

Subjects
Peroxisomal ghost, Peroxisome-biogenesis disorders, Genetics, Zellweger syndrome, Genetics(clinical), Complementation groups, Peroxisomal membrane protein, Peroxin Pex16p
Abstract

SummaryPeroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as by a malfunction of peroxisomes, among which >10 genotypes have been identified. We have isolated a human PEX16 cDNA (HsPEX16) by performing an expressed-sequence-tag homology search on a human DNA database, by using yeast PEX16 from Yarrowia lipolytica and then screening the human liver cDNA library. This cDNA encodes a peroxisomal protein (a peroxin Pex16p) made up of 336 amino acids. Among 13 peroxisome-deficiency complementation groups (CGs), HsPEX16 expression morphologically and biochemically restored peroxisome biogenesis only in fibroblasts from a CG-D patient with ZS in Japan (the same group as CG-IX in the United States). Pex16p was localized to peroxisomes through expression study of epitope-tagged Pex16p. One patient (PBDD-01) possessed a homozygous, inactivating nonsense mutation, C→T at position 526 in a codon (CGA) for 176Arg, that resulted in a termination codon (TGA). This implies that the C-terminal half is required for the biological function of Pex16p. PBDD-01–derived PEX16 cDNA was defective in peroxisome-restoring activity when expressed in the patient's fibroblasts. These results demonstrate that mutation in PEX16 is the genetic cause of CG-D PBDs.

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