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Molecular and Cellular Biology Volume 18, 1998 - Issue 7

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Cell and Organelle Structure and Assembly

PEX12, the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p

Kanji Okumotoa Department of Biology, Faculty of Science, Kyushu University, Fukuoka812-8581

Nobuyuki Shimozawab Department of Pediatrics, Gifu University School of Medicine, Gifu500-8076

Atsusi Kawaia Department of Biology, Faculty of Science, Kyushu University, Fukuoka812-8581

Shigehiko Tamuraa Department of Biology, Faculty of Science, Kyushu University, Fukuoka812-8581

Toshiro Tsukamotoc Department of Life Science, Himeji Institute of Technology, Kamigori, Hyogo678-1297

Takashi Osumic Department of Life Science, Himeji Institute of Technology, Kamigori, Hyogo678-1297

Hugo Mosere Kennedy-Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland21205

Ronald J. A. Wandersf Department of Pediatrics, Academic Medical Centre, University of Amsterdam, 1100DE Amsterdam, The Netherlands

Yasuyuki Suzukib Department of Pediatrics, Gifu University School of Medicine, Gifu500-8076

Naomi Kondob Department of Pediatrics, Gifu University School of Medicine, Gifu500-8076

Yukio Fujikia Department of Biology, Faculty of Science, Kyushu University, Fukuoka812-8581;d CREST, Japan Science and Technology Corporation, Tokyo170-0013, JapanCorrespondence[email protected]

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Pages 4324-4336 | Received 24 Oct 1997, Accepted 26 Mar 1998, Published online: 28 Mar 2023

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https://doi.org/10.1128/MCB.18.7.4324

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Satoru Mukai, Takashi Matsuzaki & Yukio Fujiki. (2019) The cytosolic peroxisome-targeting signal (PTS)-receptors, Pex7p and Pex5pL, are sufficient to transport PTS2 proteins to peroxisomes. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1866:3, pages 441-449.
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Hajime Niwa, Yasuhiro Miyauchi-Nanri, Kanji Okumoto, Satoru Mukai, Kentaro Noi, Teru Ogura & Yukio Fujiki. (2018) A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. The Journal of Biochemistry.
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Naohiko Kinoshita, Akira Matsuura & Yukio Fujiki. (2017) Peroxisome biogenesis: a novel inducible PEX19 splicing variant is involved in early stages of peroxisome proliferation. The Journal of Biochemistry 161:3, pages 297-308.
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Yukio FUJIKI. (2016) Peroxisome biogenesis and human peroxisome-deficiency disorders. Proceedings of the Japan Academy, Series B 92:10, pages 463-477.
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Li Jiang, Sayuri Hara-Kuge, Shun-ichi Yamashita & Yukio Fujiki. (2015) Peroxin Pex14p is the key component for coordinated autophagic degradation of mammalian peroxisomes by direct binding to LC3-II. Genes to Cells 20:1, pages 36-49.
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Y. Fujiki, K. Okumoto, S. Mukai & S. Tamura. 2014. Molecular Machines Involved in Peroxisome Biogenesis and Maintenance. Molecular Machines Involved in Peroxisome Biogenesis and Maintenance 91 110 .

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Masafumi Noguchi, Kanji Okumoto & Yukio Fujiki. (2013) System to quantify the import of peroxisomal matrix proteins by fluorescence intensity. Genes to Cells 18:6, pages 476-492.
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Xueqian Liu & Suresh Subramani. (2013) Unique Requirements for Mono- and Polyubiquitination of the Peroxisomal Targeting Signal Co-receptor, Pex20. Journal of Biological Chemistry 288:10, pages 7230-7240.
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Hans R. Waterham & Merel S. Ebberink. (2012) Genetics and molecular basis of human peroxisome biogenesis disorders. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1822:9, pages 1430-1441.
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Akinori Itoyama, Masanori Honsho, Yuichi Abe, Ann Moser, Yumi Yoshida & Yukio Fujiki. (2012) Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division. Journal of Cell Science 125:3, pages 589-602.
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Non Miyata, Kanji Okumoto, Satoru Mukai, Masafumi Noguchi & Yukio Fujiki. (2012) AWP1/ZFAND6 Functions in Pex5 Export by Interacting with Cys-Monoubiquitinated Pex5 and Pex6 AAA ATPase. Traffic 13:1, pages 168-183.
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Kanji Okumoto, Yukari Kametani & Yukio Fujiki. (2011) Two Proteases, Trypsin Domain-containing 1 (Tysnd1) and Peroxisomal Lon Protease (PsLon), Cooperatively Regulate Fatty Acid β-Oxidation in Peroxisomal Matrix. Journal of Biological Chemistry 286:52, pages 44367-44379.
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Kanji Okumoto, Sachi Misono, Non Miyata, Yui Matsumoto, Satoru Mukai & Yukio Fujiki. (2011) Cysteine Ubiquitination of PTS1 Receptor Pex5p Regulates Pex5p Recycling. Traffic 12:8, pages 1067-1083.
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M. Honsho, Y. Hashiguchi, K. Ghaedi & Y. Fujiki. (2010) Interaction defect of the medium isoform of PTS1-receptor Pex5p with PTS2-receptor Pex7p abrogates the PTS2 protein import into peroxisomes in mammals. Journal of Biochemistry 149:2, pages 203-210.
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Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, Janet Koster, Ronald J.A. Wanders & Hans R. Waterham. (2011) Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Human Mutation 32:1, pages 59-69.
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Takashi Matsuzaki & Yukio Fujiki. (2008) The peroxisomal membrane protein import receptor Pex3p is directly transported to peroxisomes by a novel Pex19p- and Pex16p-dependent pathway. Journal of Cell Biology 183:7, pages 1275-1286.
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Kamran Ghaedi & Yukio Fujiki. (2008) Isolation and characterization of novel phenotype CHO cell mutants defective in peroxisome assembly, using ICR191 as a potent mutagenic agent. Cell Biochemistry and Function 26:6, pages 684-691.
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Steven J. Steinberg, Gabriele Dodt, Gerald V. Raymond, Nancy E. Braverman, Ann B. Moser & Hugo W. Moser. (2006) Peroxisome biogenesis disorders. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1763:12, pages 1733-1748.
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Yuji Matsuzono, Takashi Matsuzaki & Yukio Fujiki. (2006) Functional domain mapping of peroxin Pex19p: interaction with Pex3p is essential for function and translocation. Journal of Cell Science 119:17, pages 3539-3550.
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Shigehiko Tamura, Shinobu Yasutake, Naomi Matsumoto & Yukio Fujiki. (2006) Dynamic and Functional Assembly of the AAA Peroxins, Pex1p and Pex6p, and Their Membrane Receptor Pex26p. Journal of Biological Chemistry 281:38, pages 27693-27704.
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Ritsu Ito, Masashi Morita, Norimasa Takahashi, Nobuyuki Shimozawa, Nobuteru Usuda, Tsuneo Imanaka & Masaki Ito. (2005) Identification of Pex5pM, and Retarded Maturation of 3-Ketoacyl-CoA Thiolase and Acyl-CoA Oxidase in CHO Cells Expressing Mutant Pex5p Isoforms. The Journal of Biochemistry 138:6, pages 781-790.
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Martina Biermanns & Jutta Gärtner. (2000) Genomic Organization and Characterization of Human PEX2 Encoding a 35-kDa Peroxisomal Membrane Protein. Biochemical and Biophysical Research Communications 273:3, pages 985-990.
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Kamran Ghaedi, Shigehiko TamuraKanji OkumotoYuji MatsuzonoYukio Fujiki. (2000) The Peroxin Pex3p Initiates Membrane Assembly in Peroxisome Biogenesis. Molecular Biology of the Cell 11:6, pages 2085-2102.
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J. Gärtner. (2000) Disorders related to peroxisomal membranes. Journal of Inherited Metabolic Disease 23:3, pages 264-272.
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Atsushi Imamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Toshiro Tsukamoto, Yukio Fujiki, Tadao Orii, Takashi Osumi & Naomi Kondo. (2000) Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans. Brain and Development 22:1, pages 8-12.
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Chia-Che Chang, Daniel S. Warren, Katherine A. Sacksteder & Stephen J. Gould. (1999) Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import. Journal of Cell Biology 147:4, pages 761-774.
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Hugo W. Moser. (1999) Genotype–Phenotype Correlations in Disorders of Peroxisome Biogenesis. Molecular Genetics and Metabolism 68:2, pages 316-327.
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R. Toyama, S. Mukai, A. Itagaki, S. Tamura, N. Shimozawa, Y. Suzuki, N. Kondo, R. J. A. Wanders & Y. Fujiki. (1999) Isolation, Characterization and Mutation Analysis of PEX13-Defective Chinese Hamster Ovary Cell Mutants. Human Molecular Genetics 8:9, pages 1673-1681.
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Yifei Liu, Jonas Björkman, Aaron Urquhart, Ronald J.A. Wanders, Denis I. Crane & Stephen J. Gould. (1999) PEX13 Is Mutated in Complementation Group 13 of the Peroxisome-Biogenesis Disorders. The American Journal of Human Genetics 65:3, pages 621-634.
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Kamran Ghaedi, Atsushi Kawai, Kanji Okumoto, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo & Yukio Fujiki. (1999) Isolation and Characterization of Novel Peroxisome Biogenesis-Defective Chinese Hamster Ovary Cell Mutants Using Green Fluorescent Protein. Experimental Cell Research 248:2, pages 489-497.
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Kamran Ghaedi, Atsushi Itagaki, Ryusuke Toyama, Shigehiko Tamura, Tsuyoshi Matsumura, Atsushi Kawai, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo & Yukio Fujiki. (1999) Newly Identified Chinese Hamster Ovary Cell Mutants Defective in Peroxisome Assembly Represent Complementation Group A of Human Peroxisome Biogenesis Disorders and One Novel Group in Mammals. Experimental Cell Research 248:2, pages 482-488.
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Yuji Matsuzono, Naohiko Kinoshita, Shigehiko Tamura, Nobuyuki Shimozawa, Maho Hamasaki, Kamran Ghaedi, Ronald J. A. Wanders, Yasuyuki Suzuki, Naomi Kondo & Yukio Fujiki. (1999) Human PEX19 : cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly . Proceedings of the National Academy of Sciences 96:5, pages 2116-2121.
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Masanori Honsho, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo & Yukio Fujiki. (1998) Mutation in Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D. The American Journal of Human Genetics 63:6, pages 1622-1630.
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Chia-Che Chang & Stephen J. Gould. (1998) Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders. The American Journal of Human Genetics 63:5, pages 1294-1306.
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Isao Abe & Yukio Fujiki. (1998) cDNA Cloning and Characterization of a Constitutively Expressed Isoform of the Human Peroxin Pex11p. Biochemical and Biophysical Research Communications 252:2, pages 529-533.
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Naohiko Kinoshita, Kamran Ghaedi, Nobuyuki Shimozawa, Ronald J.A. Wanders, Yuji Matsuzono, Tsuneo Imanaka, Kanji Okumoto, Yasuyuki Suzuki, Naomi Kondo & Yukio Fujiki. (1998) Newly Identified Chinese Hamster Ovary Cell Mutants Are Defective in Biogenesis of Peroxisomal Membrane Vesicles (Peroxisomal Ghosts), Representing a Novel Complementation Group in Mammals. Journal of Biological Chemistry 273:37, pages 24122-24130.
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PEX12, the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p

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PEX12, the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p

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