Osumi T - Search Results

1

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N. Zhang Z, et al. Among authors: osumi t. Hum Mutat. 1999;13(6):487-96. doi: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10408779

2

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N. Shimozawa N, et al. Among authors: osumi t. Hum Mutat. 2004 Jun;23(6):552-8. doi: 10.1002/humu.20032. Hum Mutat. 2004. PMID: 15146459

3

Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant.

Tsukamoto T, Miura S, Nakai T, Yokota S, Shimozawa N, Suzuki Y, Orii T, Fujiki Y, Sakai F, Bogaki A, Yasumo H, Osumi T. Tsukamoto T, et al. Among authors: osumi t. Nat Genet. 1995 Dec;11(4):395-401. doi: 10.1038/ng1295-395. Nat Genet. 1995. PMID: 7493019

4

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N. Fukuda S, et al. Among authors: osumi t. Am J Hum Genet. 1996 Dec;59(6):1210-20. Am J Hum Genet. 1996. PMID: 8940266 Free PMC article.

5

Cloning of peroxisome assembly factor-2.

Tsukamoto T, Osumi T. Tsukamoto T, et al. Among authors: osumi t. Ann N Y Acad Sci. 1996 Dec 27;804:656-7. doi: 10.1111/j.1749-6632.1996.tb18655.x. Ann N Y Acad Sci. 1996. PMID: 8993583 No abstract available.

6

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Tsukamoto T, Osumi T, Tateishi K, Okumoto K, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N. Shimozawa N, et al. Among authors: osumi t. Biochem Biophys Res Commun. 1998 Feb 13;243(2):368-71. doi: 10.1006/bbrc.1997.8067. Biochem Biophys Res Commun. 1998. PMID: 9480815

7

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.

Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Orii T, Kondo N, Osumi T, Fujiki Y. Imamura A, et al. Among authors: osumi t. Hum Mol Genet. 1998 Dec;7(13):2089-94. doi: 10.1093/hmg/7.13.2089. Hum Mol Genet. 1998. PMID: 9817926

8

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N. Shimozawa N, et al. Among authors: osumi t. Hum Mol Genet. 1999 Jun;8(6):1077-83. doi: 10.1093/hmg/8.6.1077. Hum Mol Genet. 1999. PMID: 10332040

9

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders RJ, Besley G, Kondo N. Shimozawa N, et al. Among authors: osumi t. J Med Genet. 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779. J Med Genet. 1999. PMID: 10528859 Free PMC article.

10

Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.

Imamura A, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Fujiki Y, Orii T, Osumi T, Kondo N. Imamura A, et al. Among authors: osumi t. Brain Dev. 2000 Jan;22(1):8-12. doi: 10.1016/s0387-7604(99)00072-8. Brain Dev. 2000. PMID: 10761827

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