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Nobuyuki Shimozawa

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Masashi Morita; Nobuyuki Shimozawa; Kenji Sugai; Kozue Yamazaki; Ayako Honda; Kosuke Kawaguchi; Junpei Kobayashi; Reiji Koide; Tsuneo Imanaka
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
Hiroshi Mizumoto; Nobuyuki Shimozawa; Yoko Yoshida; Ryoko Akashi; Norikatsu Hikita; Ayako Honda; Akira Kumakura; Daisuke Hata
Mild case of D-bifunctional protein deficiency associated with novel gene mutations.
Sachi Kozawa; Tomoko Nagase; Shigeru Nakashima; Hideki Nikami; Yukio Okano; Ayako Honda; Naomi Kajiwara; Yasuhiko Takemoto; Nobuyuki Shimozawa
Induction of peroxisomal lipid metabolism in mice fed a high-fat diet.

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2013: Masashi Morita; Nobuyuki Shimozawa; Kenji Sugai; Kozue Yamazaki; Ayako Honda; Kosuke Kawaguchi; Junpei Kobayashi; Reiji Koide; Tsuneo Imanaka
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
JIMD reports 2013;10():95-102.
2012: Hiroshi Mizumoto; Nobuyuki Shimozawa; Yoko Yoshida; Ryoko Akashi; Norikatsu Hikita; Ayako Honda; Akira Kumakura; Daisuke Hata
Mild case of D-bifunctional protein deficiency associated with novel gene mutations.
Pediatrics international : official journal of the Japan Pediatric Society 2012;54(2):303-4.
2011: Sachi Kozawa; Tomoko Nagase; Shigeru Nakashima; Hideki Nikami; Yukio Okano; Ayako Honda; Naomi Kajiwara; Yasuhiko Takemoto; Nobuyuki Shimozawa
Induction of peroxisomal lipid metabolism in mice fed a high-fat diet.
Molecular medicine reports 2011;4(6):1157-62.
2011: Nobuyuki Shimozawa
Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases.
Brain & development 2011;33(9):770-6.
2011: Masashi Morita; Nobuyuki Shimozawa; Yoshinori Kashiwayama; Yasuyuki Suzuki; Tsuneo Imanaka
ABC subfamily D proteins and very long chain fatty acid metabolism as novel targets in adrenoleukodystrophy.
Current drug targets 2011;12(5):694-706.
2011: Nobuyuki Shimozawa; Ayako Honda; Naomi Kajiwara; Sachi Kozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Journal of human genetics 2011;56(2):106-9.
2011: Takashi Matsukawa; Muriel Asheuer; Yuji K Takahashi; Jun Goto; Yasuyuki Suzuki; Nobuyuki Shimozawa; Hiroki Takano; Osamu Onodera; Masatoyo Nishizawa; Patrick Aubourg; Shoji Tsuji
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Neurogenetics 2011;12(1):41-50.
2009: Yasuyuki Suzuki; A Aoyama; Tomomi Kato; Nobuyuki Shimozawa; Tadao Orii
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype.
Journal of inherited metabolic disease 2009;32(4):582-3.
2008: Yuji K Takahashi; Naomi Seki; Hiroyuki Ishiura; Jun Mitsui; Takashi Matsukawa; Atsushi Kishino; Osamu Onodera; Masashi Aoki; Nobuyuki Shimozawa; Shigeo Murayama; Yasuto Itoyama; Yasuyuki Suzuki; Gen Sobue; Masatoyo Nishizawa; Jun Goto; Shoji Tsuji
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Archives of neurology 2008;65(10):1326-32.
2008: Makiko Saitoh; Sumimasa Yamashita; Nobuyuki Shimozawa; Masashi Mizuguchi; Masao Iwamori
Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with D-bifunctional protein deficiency.
Neuroscience letters 2008;442(1):4-9.
2008: Osama Y Al-Dirbashi; Tomofumi Santa; Mohamed S Rashed; Zuhair Al-Hassnan; Nobuyuki Shimozawa; Aziza Chedrawi; Minnie Jacob; Manhal Al-Mokhadab
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders.
Journal of lipid research 2008;49(8):1855-62.
2008: Izumi Kuratsubo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo
Parents of childhood X-linked adrenoleukodystrophy: high risk for depression and neurosis.
Brain & development 2008;30(7):477-82.
2008: Masashi Morita; M Kanai; S Mizuno; Makoto Iwashima; Toshimitsu Hayashi; Nobuyuki Shimozawa; Y Suzuki; Tsuneo Imanaka
Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation.
Journal of inherited metabolic disease 2008;31(3):442-9.
2007: Norimasa Takahashi; Masashi Morita; Takanori Maeda; Yuta Harayama; Nobuyuki Shimozawa; Yasuyuki Suzuki; Hirokazu Furuya; Ryuichiro Sato; Yoshinori Kashiwayama; Tsuneo Imanaka
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
Journal of neurochemistry 2007;101(6):1632-43.
2007: Nobuyuki Shimozawa
Molecular and clinical aspects of peroxisomal diseases.
Journal of inherited metabolic disease 2007;30(2):193-7.
2006: Kumiko Shiozawa; Natsuko Goda; Toshiyuki Shimizu; Kenji Mizuguchi; Naomi Kondo; Nobuyuki Shimozawa; Masahiro Shirakawa; Hidekazu Hiroaki
The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97.
The FEBS journal 2006;273(21):4959-71.
2006: Michinori Funato; Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki; Yoshihiko Imamura; Tadashi Matsumoto; Toshiro Tsukamoto; Tomoko Kojidani; Takashi Osumi; Toshiyuki Fukao; Naomi Kondo
Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
Brain & development 2006;28(5):287-92.
2005: Yoshinori Kashiwayama; Kota Asahina; Hiroyuki Shibata; Masashi Morita; Ania C Muntau; Adelbert A Roscher; Ronald J A Wanders; Nobuyuki Shimozawa; Masao Sakaguchi; Hiroaki Kato; Tsuneo Imanaka
Role of Pex19p in the targeting of PMP70 to peroxisome.
Biochimica et biophysica acta 2005;1746(2):116-28.
2005: Ritsu Ito; Masashi Morita; Norimasa Takahashi; Nobuyuki Shimozawa; Nobuteru Usuda; Tsuneo Imanaka; Masaki Ito
Identification of Pex5pM, and retarded maturation of 3-ketoacyl-CoA thiolase and acyl-CoA oxidase in CHO cells expressing mutant Pex5p isoforms.
Journal of biochemistry 2005;138(6):781-90.
2005: Yasuyuki Suzuki; Yasuhiko Takemoto; Nobuyuki Shimozawa; Tsuneo Imanaka; Shunichi Kato; Hirokazu Furuya; Makiko Kaga; Koji Kato; Naohiro Hashimoto; Osamu Onodera; Shoji Tsuji
Natural history of X-linked adrenoleukodystrophy in Japan.
Brain & development 2005;27(5):353-7.
2005: Kazuyuki Hashimoto; Zenichiro Kato; Tomoko Nagase; Nobuyuki Shimozawa; Kazuo Kuwata; Kentaro Omoya; Ailian Li; Eiji Matsukuma; Yutaka Yamamoto; Hidenori Ohnishi; Hidehito Tochio; Masahiro Shirakawa; Yasuyuki Suzuki; Ronald J A Wanders; Naomi Kondo
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
Pediatric research 2005;58(2):263-9.
2005: Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Michinori Funato; Naomi Kondo; Yasuyuki Suzuki
Molecular and neurologic findings of peroxisome biogenesis disorders.
Journal of child neurology 2005;20(4):326-9.
2005: Masashi Morita; Ikuko Takahashi; Mariko Kanai; Fumito Okafuji; Makoto Iwashima; Toshimitsu Hayashi; Shiro Watanabe; Tomohito Hamazaki; Nobuyuki Shimozawa; Yasuyuki Suzuki; Hirokazu Furuya; Takeshi Yamada; Tsuneo Imanaka
Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy.
FEBS letters 2005;579(2):409-14.
2005: Tomomi Kato; Zenichiro Kato; Izumi Kuratsubo; Noboru Tanaka; Tabito Ishigami; Jun-Ichi Kajihara; Kazuko Sukegawa-Hayasaka; Koji O Orii; Koji Isogai; Toshiyuki Fukao; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo; Yasuyuki Suzuki
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Journal of human genetics 2005;50(8):395-402.
2004: Nobuyuki Shimozawa; Toshiro Tsukamoto; Tomoko Nagase; Yasuhiko Takemoto; Naoki Koyama; Yasuyuki Suzuki; Masayuki Komori; Takashi Osumi; Gootjes Jeannette; Ronald J A Wanders; Naomi Kondo
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
Human mutation 2004;23(6):552-8.
2004: Tomoko Nagase; Nobuyuki Shimozawa; Yasuhiko Takemoto; Yasuyuki Suzuki; Masayuki Komori; Naomi Kondo
Peroxisomal localization in the developing mouse cerebellum: implications for neuronal abnormalities related to deficiencies in peroxisomes.
Biochimica et biophysica acta 2004;1671(1-3):26-33.
2004: Jeannette Gootjes; Orly Elpeleg; François Eyskens; Hanna Mandel; Delphine Mitanchez; Nobuyuki Shimozawa; Yasuyuki Suzuki; Hans R Waterham; Ronald J A Wanders
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Pediatric research 2004;55(3):431-6.
2004: Miki Kikuchi; Naoya Hatano; Sadaki Yokota; Nobuyuki Shimozawa; Tsuneo Imanaka; Hisaaki Taniguchi
Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease.
The Journal of biological chemistry 2004;279(1):421-8.
2003: Yasuhiko Takemoto; Yasuyuki Suzuki; Ryoko Horibe; Nobuyuki Shimozawa; Ronald J A Wanders; Naomi Kondo
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.
Brain & development 2003;25(7):481-7.
2003: Naomi Matsumoto; Shigehiko Tamura; Satomi Furuki; Non Miyata; Ann B Moser; Nobuyuki Shimozawa; Hugo W Moser; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
American journal of human genetics 2003;73(2):233-46.
2003: Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Toshihiro Ohura; Yasuyuki Suzuki; Naomi Kondo
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
American journal of medical genetics. Part A 2003;120A(1):40-3.
2003: Naohide Shiroma; Naomi Kanazawa; Zenichiro Kato; Nobuyuki Shimozawa; Atsushi Imamura; Masayuki Ito; Kyoich Ohtani; Akira Oka; Kazuyo Wakabayashi; Mizue Iai; Kenji Sugai; Masayuki Sasaki; Makiko Kaga; Takao Ohta; Seiichi Tsujino
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
Brain & development 2003;25(2):116-21.
2003: Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki; Naomi Kondo
Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
Advances in experimental medicine and biology 2003;544():71.
2002: Kenji E Orii; Zenichiro Kato; Fukutomi Osamu; Michinori Funato; Uniko Kubodera; Ryosuke Inoue; Nobuyuki Shimozawa; Naomi Kondo
Changes of autonomic nervous system function in patients with breath-holding spells treated with iron.
Journal of child neurology 2002;17(5):337-40.
2002: Annick Raas-Rothschild; Ronald J A Wanders; Petra A W Mooijer; Jeannette Gootjes; Hans R Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H Korman
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
American journal of human genetics 2002;70(4):1062-8.
2002: Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki; Yukio Fujiki; Ronald J A Wanders; Naomi Kondo
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.
Biochemical and biophysical research communications 2002;292(1):109-12.
2002: Nobuyuki Shimozawa
[Neurocutaneous syndrome(tuberous sclerosis and Sturge-Weber syndrome)].
Ryōikibetsu shōkōgun shirīzu 2002;(37 Pt 6):130-2.
2002: Yasuhiko Takemoto; Yasuyuki Suzuki; Akiko Tamakoshi; Osamu Onodera; Shoji Tsuji; Takashi Hashimoto; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo
Epidemiology of X-linked adrenoleukodystrophy in Japan.
Journal of human genetics 2002;47(11):590-3.
2002: Yasuyuki Suzuki; Mizue Iai; Atsushi Kamei; Yuzo Tanabe; Shoichi Chida; Seiji Yamaguchi; Zhongyi Zhang; Yasuhiko Takemoto; Nobuyuki Shimozawa; Naomi Kondo
Peroxisomal acyl CoA oxidase deficiency.
The Journal of pediatrics 2002;140(1):128-30.
2001: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Naomi Kondo
Genetic and molecular bases of peroxisome biogenesis disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(5):372-6.
2001: Shigehiko Tamura; Naomi Matsumoto; A Imamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
The Biochemical journal 2001;357(Pt 2):417-26.
2001: Nobuyuki Shimozawa
[Phenotype--genotype relationships in peroxisome biogenesis disorders].
Nō to shinkei = Brain and nerve 2001;53(5):411-20.
2001: Yasuyuki Suzuki; Nobuyuki Shimozawa; A Imamura; Seiji Fukuda; Zhongyi Zhang; Tadao Orii; Naomi Kondo
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Journal of inherited metabolic disease 2001;24(2):151-65.
2001: Yasuyuki Suzuki; A Imamura; Nobuyuki Shimozawa; Naomi Kondo
The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil.
Brain & development 2001;23(1):30-3.
2001: Naomi Matsumoto; Shigehiko Tamura; Ann B Moser; Hugo W Moser; N Braverman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Yukio Fujiki
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
Journal of human genetics 2001;46(5):273-7.
2000: C Fujiwara; A Imamura; Noriyo Hashiguchi; Nobuyuki Shimozawa; Y Suzuki; N Kondo; Tsuneo Imanaka; Toshiro Tsukamoto; Takashi Osumi
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
The Journal of biological chemistry 2000;275(47):37271-7.
2000: A Imamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Toshiro Tsukamoto; Yukio Fujiki; Tadao Orii; Takashi Osumi; Ronald J A Wanders; Naomi Kondo
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
Pediatric research 2000;48(4):541-5.
2000: Kamran Ghaedi; Masanori Honsho; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.
American journal of human genetics 2000;67(4):976-81.
2000: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; A Imamura; K Ghaedi; Yukio Fujiki; Naomi Kondo
Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.
Human molecular genetics 2000;9(13):1995-9.
2000: Yasuyuki Suzuki; Koji Isogai; Takahide Teramoto; H Tashita; Nobuyuki Shimozawa; M Nishimura; T Asano; M Oda; A Kamei; H Ishiguro; S Kato; T Ohashi; H Kobayashi; Y Eto; Naomi Kondo
Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.
Journal of inherited metabolic disease 2000;23(5):453-8.
2000: Y Tanaka; Yasuyuki Suzuki; Nobuyuki Shimozawa; E Nanba; Naomi Kondo
Congenital myotonic dystrophy: report of paternal transmission.
Brain & development 2000;22(2):132-4.
2000: Nobuyuki Shimozawa; Zhongyi Zhang; A Imamura; Yasuyuki Suzuki; Yukio Fujiki; Toshiro Tsukamoto; Takashi Osumi; P Aubourg; Ronald J A Wanders; Naomi Kondo
Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient.
Biochemical and biophysical research communications 2000;268(1):31-5.
2000: Takeshi Yamada; Nobue Shinnoh; A Kondo; A Uchiyama; Nobuyuki Shimozawa; Jun-ichi Kira; Takashi Kobayashi
Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.
Cell biochemistry and biophysics 2000;32 Spring():239-46.
2000: Takashi Osumi; A Imamura; Toshiro Tsukamoto; C Fujiwara; Noriyo Hashiguchi; Nobuyuki Shimozawa; Y Suzuki; N Kondo
Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
Cell biochemistry and biophysics 2000;32 Spring():165-70.
2000: Nobuyuki Shimozawa
[Carpenter syndrome (acrocephalopolysyndactyly type II)].
Ryōikibetsu shōkōgun shirīzu 2000;(28 Pt 3):571-3.
2000: Yasuyuki Suzuki; Nobuyuki Shimozawa; A Imamura; Naomi Kondo
[Peroxisomal disorders].
Ryōikibetsu shōkōgun shirīzu 2000;(29 Pt 4):452-9.
2000: A Imamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Toshiro Tsukamoto; Yukio Fujiki; Tadao Orii; Takashi Osumi; Naomi Kondo
Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
Brain & development 2000;22(1):8-12.
1999: Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Yoshito Takahashi; Toshiyuki Fukao
[Genetics of neurologic disorders in children].
Nihon rinsho. Japanese journal of clinical medicine 1999;57 Suppl():700-6.
1999: Zenichiro Kato; K Yasuda; Kazunari Ishii; H Takagi; S Mizuno; Nobuyuki Shimozawa; N Kondo
Glucose metabolism evaluated by positron emission tomography in Lafora disease.
Pediatrics international : official journal of the Japan Pediatric Society 1999;41(6):689-92.
1999: Nobuyuki Shimozawa; A Imamura; Zhongyi Zhang; Yasuyuki Suzuki; Tadao Orii; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Ronald J A Wanders; G T N Besley; Naomi Kondo
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Journal of medical genetics 1999;36(10):779-81.
1999: R Toyama; Satoru Mukai; A Itagaki; Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Ronald J A Wanders; Yukio Fujiki
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.
Human molecular genetics 1999;8(9):1673-81.
1999: Nobuyuki Shimozawa; Zhongyi Zhang; Yasuyuki Suzuki; A Imamura; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Tadao Orii; PG Barth; Ronald J A Wanders; Naomi Kondo
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
Biochemical and biophysical research communications 1999;262(2):504-8.
1999: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; A Imamura; R Toyama; Satoru Mukai; Yukio Fujiki; Toshiro Tsukamoto; Takashi Osumi; Tadao Orii; Ronald J A Wanders; Naomi Kondo
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Human molecular genetics 1999;8(6):1077-83.
1999: Ronald J A Wanders; Petra A W Mooijer; Conny Dekker; Yasuyuki Suzuki; Nobuyuki Shimozawa
Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).
Journal of inherited metabolic disease 1999;22(3):314-8.
1999: Kamran Ghaedi; A Kawai; Kanji Okumoto; Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Isolation and characterization of novel peroxisome biogenesis-defective Chinese hamster ovary cell mutants using green fluorescent protein.
Experimental cell research 1999;248(2):489-97.
1999: Kamran Ghaedi; A Itagaki; R Toyama; Shigehiko Tamura; Tsuyoshi Matsumura; A Kawai; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
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 1999;248(2):482-8.
1999: Yasuyuki Suzuki; Nobuyuki Shimozawa; A Imamura; Zhongyi Zhang; Naomi Kondo
[Newly identified peroxisomal disorders].
Nō to shinkei = Brain and nerve 1999;51(4):295-302.
1999: Yuji Matsuzono; Naohiko Kinoshita; Shigehiko Tamura; Nobuyuki Shimozawa; M Hamasaki; Kamran Ghaedi; Ronald J A Wanders; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
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 of the United States of America 1999;96(5):2116-21.
1999: Takeshi Yamada; Takayuki Taniwaki; Nobue Shinnoh; A Uchiyama; Nobuyuki Shimozawa; Yasumasa Ohyagi; H Asahara; Jun-ichi Kira
Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome.
Neurology 1999;52(3):614-6.
1999: Zhongyi Zhang; Yasuyuki Suzuki; Nobuyuki Shimozawa; Seiji Fukuda; A Imamura; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki; Tadao Orii; Ronald J A Wanders; PG Barth; H W Moser; B C Paton; G T N Besley; Naomi Kondo
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Human mutation 1999;13(6):487-96.
1999: Yasuyuki Suzuki; Zhongyi Zhang; Nobuyuki Shimozawa; Masami Muro; Hideaki Shono; S Toda; S Miyahara; Takao Hashimoto; N Usuda; M Ito; S Takashima; Naomi Kondo
Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
Journal of human genetics 1999;44(3):143-7.
1999: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; K Miura; A Matsumoto; M Nagaya; S Castillo-Taucher; Naomi Kondo
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
Journal of human genetics 1999;44(2):123-5.
1998: Nobuyuki Shimozawa; Yasuyuki Suzuki; Z Zhang; A Imamura; N Kondo; N Kinoshita; Y Fujiki; T Tsukamoto; T Osumi; T Imanaka; T Orii; F Beemer; Petra A W Mooijer; Conny Dekker; Ronald J A Wanders
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.
American journal of human genetics 1998;63(6):1898-903.
1998: Masanori Honsho; Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
American journal of human genetics 1998;63(6):1622-30.
1998: A Imamura; S Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Toshiro Tsukamoto; Tadao Orii; Naomi Kondo; Takashi Osumi; Yukio Fujiki
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
Human molecular genetics 1998;7(13):2089-94.
1998: Naohiko Kinoshita; Kamran Ghaedi; Nobuyuki Shimozawa; Ronald J A Wanders; Yuji Matsuzono; T Imanaka; Kanji Okumoto; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals.
The Journal of biological chemistry 1998;273(37):24122-30.
1998: Y Yamada; Ryosuke Inoue; Toshiyuki Fukao; Hideo Kaneko; Koji Isogai; S Fukuda; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Eiichi Azuma; M Sakurai
Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol.
Pediatric hematology and oncology 1998;15(5):425-9.
1998: Kanji Okumoto; Ryota Itoh; Nobuyuki Shimozawa; Yasuyuki Suzuki; Shigehiko Tamura; Naomi Kondo; Yukio Fujiki
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Human molecular genetics 1998;7(9):1399-405.
1998: Kanji Okumoto; Nobuyuki Shimozawa; A Kawai; Shigehiko Tamura; Toshiro Tsukamoto; Takashi Osumi; H Moser; Ronald J A Wanders; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
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.
Molecular and cellular biology 1998;18(7):4324-36.
1998: Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Toshiro Tsukamoto; Takashi Osumi; Yukio Fujiki
A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p.
Biochemical and biophysical research communications 1998;245(3):883-6.
1998: Shigehiko Tamura; Kanji Okumoto; R Toyama; Nobuyuki Shimozawa; Toshiro Tsukamoto; Yasuyuki Suzuki; Takashi Osumi; Naomi Kondo; Yukio Fujiki
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(8):4350-5.
1998: S Mizuno; H Goto; H Hoshi; N Yamada; Zenichiro Kato; Yukitoshi Takahashi; Nobuyuki Shimozawa; N Kondo
[Two cases of two-year-old girls with hypoxic ischemic encephalopathy induced by convulsive status].
Kaku igaku. The Japanese journal of nuclear medicine 1998;35(3):141-6.
1998: Nobuyuki Shimozawa
[Molecular analysis of peroxisomal disorders].
No to hattatsu. Brain and development 1998;30(2):128-33.
1998: Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; A Imamura; Toshiro Tsukamoto; Takashi Osumi; K Tateishi; Kanji Okumoto; Yukio Fujiki; Tadao Orii; PG Barth; Ronald J A Wanders; Naomi Kondo
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.
Biochemical and biophysical research communications 1998;243(2):368-71.
1998: Seiji Fukuda; Yasuyuki Suzuki; Nobuyuki Shimozawa; Zhongyi Zhang; Tadao Orii; Toshifumi Aoyama; Takao Hashimoto; Naomi Kondo
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
Journal of inherited metabolic disease 1998;21(1):23-8.
1998: Nobuyuki Shimozawa
[Dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency and alkyl-DHAP synthase deficiency].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):313-4.
1998: Nobuyuki Shimozawa
[Rhizomelic chondrodysplasia punctata (RCDP)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):310-2.
1998: Nobuyuki Shimozawa
[Infantile Refsum disease].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):308-9.
1998: Nobuyuki Shimozawa
[Neonatal adrenoleukodystrophy].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):305-7.
1998: Nobuyuki Shimozawa
[Zellweger syndrome].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):299-304.
1998: Nobuyuki Shimozawa; Yasuyuki Suzuki; Shunji Tomatsu; Haruki Nakamura; T Kono; H Takada; Toshiro Tsukamoto; Yukio Fujiki; Tadao Orii; Naomi Kondo
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Human mutation 1998;Suppl 1():S134-6.
1998: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; A Yamagishi; Zenichiro Kato; N Yamada; Koji Isogai; Kazuko Sukegawa; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.
Human mutation 1998;Suppl 1():S42-6.
1997: Yasuyuki Suzuki; Ken Lee; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo
Biochemical and immunocytochemical properties of peroxisomes and mitochondria in bovine chromaffin cells.
Cell structure and function 1997;22(6):615-9.
1997: Hideo Kaneko; K O Orii; Eiko Matsui; Nobuyuki Shimozawa; Toshiyuki Fukao; T Matsumoto; A Shimamoto; Y Furuichi; S Hayakawa; Kimiko Kasahara; Naomi Kondo
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.
Biochemical and biophysical research communications 1997;240(2):348-53.
1997: Yasuyuki Suzuki; LL Jiang; M Souri; S Miyazawa; Seiji Fukuda; Zhongyi Zhang; M Une; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii; Takao Hashimoto
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
American journal of human genetics 1997;61(5):1153-62.
1997: K Tateishi; Kanji Okumoto; Nobuyuki Shimozawa; Toshiro Tsukamoto; Takashi Osumi; Yasuyuki Suzuki; Naomi Kondo; I Okano; Yukio Fujiki
Newly identified Chinese hamster ovary cell mutants defective in peroxisome biogenesis represent two novel complementation groups in mammals.
European journal of cell biology 1997;73(4):352-9.
1997: Kanji Okumoto; A Bogaki; K Tateishi; Toshiro Tsukamoto; Takashi Osumi; Nobuyuki Shimozawa; Yasuyuki Suzuki; Tadao Orii; Yukio Fujiki
Isolation and characterization of peroxisome-deficient Chinese hamster ovary cell mutants representing human complementation group III.
Experimental cell research 1997;233(1):11-20.
1997: A Imamura; Yasuyuki Suzuki; XQ Song; Toshiyuki Fukao; A Uchiyama; Nobuyuki Shimozawa; K Kamijo; Takao Hashimoto; Tadao Orii; Naomi Kondo
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Clinical genetics 1997;51(5):322-5.
1997: S Fukuda; Y Yamada; M Nishimura; Koji Isogai; T Terada; M Iwata; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo
Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia.
Clinical genetics 1997;51(4):278-80.
1997: Yukitoshi Takahashi; Yasuyuki Suzuki; K Kumazaki; Y Tanabe; S Akaboshi; K Miura; Nobuyuki Shimozawa; Naomi Kondo; T Nishiguchi; K Terada; Tadao Orii
Epilepsy in peroxisomal diseases.
Epilepsia 1997;38(2):182-8.
1997: Toshiro Tsukamoto; A Bogaki; Kanji Okumoto; K Tateishi; Yukio Fujiki; Nobuyuki Shimozawa; Y Suzuki; N Kondo; Takashi Osumi
Isolation of a new peroxisome-deficient CHO cell mutant defective in peroxisome targeting signal-1 receptor.
Biochemical and biophysical research communications 1997;230(2):402-6.
1997: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; P Ferreira; Paola Di Natale; paolo tortora; A Fujimoto; Zenichiro Kato; N Yamada; Koji Isogai; A Yamagishi; Kazuko Sukegawa; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; W S Sly; Tadao Orii
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Human mutation 1997;10(5):368-75.
1997: Kazuko Sukegawa; XQ Song; M Masuno; Toshiyuki Fukao; Nobuyuki Shimozawa; Seiji Fukuda; Koji Isogai; H Nishio; M Matsuo; Shunji Tomatsu; Naomi Kondo; Tadao Orii
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
Human mutation 1997;10(5):361-7.
1996: Yasuyuki Suzuki; Nobuyuki Shimozawa; Yukitoshi Takahashi; A Imamura; Naomi Kondo; Tadao Orii
Peroxisomal disorders: clinical aspects.
Annals of the New York Academy of Sciences 1996;804():442-9.
1996: Seiji Fukuda; Nobuyuki Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Shunji Tomatsu; T Tsukamoto; N Hashiguchi; Takashi Osumi; Mitsuo Masuno; K Imaizumi; Y Kuroki; Yukio Fujiki; Tadao Orii; Naomi Kondo
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.
American journal of human genetics 1996;59(6):1210-20.
1996: K Inoue; Yasuyuki Suzuki; S Yajima; Nobuyuki Shimozawa; Shunji Tomatsu; Tadao Orii; Naomi Kondo
Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation.
Clinical genetics 1996;50(5):348-52.
1996: Toshiyuki Fukao; S Sakai; Nobuyuki Shimozawa; T Kuwahara; M Kano; E Goto; Y Nakashima; M Katagiri-Kawade; H Ichihashi; Mitsuo Masuno; Tadao Orii; Naomi Kondo
Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
Clinical genetics 1996;50(4):244-7.
1996: Yasuyuki Suzuki; Nobuyuki Shimozawa; A Imamura; Y Fukuda; H Ichihashi; Tadao Orii; Naomi Kondo
Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect.
Acta paediatrica Japonica; Overseas edition 1996;38(5):520-3.
1996: Nobuyuki Shimozawa; Yasuyuki Suzuki; Shunji Tomatsu; T Tsukamoto; Takashi Osumi; Yukio Fujiki; K Kamijo; Takao Hashimoto; Naomi Kondo; Tadao Orii
Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.
Pediatric research 1996;39(5):812-5.
1996: Shunji Tomatsu; Seiji Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Zenichiro Kato; N Yamada; Koji Isogai; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
American journal of human genetics 1996;58(5):950-62.
1996: Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yajima; K Inoue; Tadao Orii; Naomi Kondo
Incidence of peroxisomal disorders in Japan.
The Japanese journal of human genetics 1996;41(1):167-75.
1996: A Imamura; Yasuyuki Suzuki; XQ Song; Toshiyuki Fukao; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo
Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.
Prenatal diagnosis 1996;16(3):259-61.
1996: Seiji Fukuda; Shunji Tomatsu; Mitsuo Masuno; T Ogawa; A Yamagishi; G M Rezvi; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; K Imaizumi; Y Kuroki; T Okabe; Tadao Orii
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Human mutation 1996;7(2):123-34.
1996: G M Rezvi; Shunji Tomatsu; Seiji Fukuda; A Yamagishi; A Cooper; James Wraith; H Iwata; Zenichiro Kato; N Yamada; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Tadao Orii
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.
Journal of inherited metabolic disease 1996;19(3):301-8.
1996: A Yamagishi; Shunji Tomatsu; Seiji Fukuda; A Uchiyama; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Kazuko Sukegawa; Tadao Orii
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
Human mutation 1996;7(1):23-9.
1995: T Tsukamoto; S Miura; T Nakai; S Yokota; Nobuyuki Shimozawa; Yasuyuki Suzuki; T Orii; Yukio Fujiki; F Sakai; A Bogaki; H Yasumo; Takashi Osumi
Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant.
Nature genetics 1995;11(4):395-401.
1995: XQ Song; Toshiyuki Fukao; Yasuyuki Suzuki; A Imamura; A Uchiyama; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii
Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.
Human molecular genetics 1995;4(6):1093-4.
1995: Nobue Shinnoh; Takeshi Yamada; T Yoshimura; Hirokazu Furuya; Yuichiro Yoshida; Yasuyuki Suzuki; Nobuyuki Shimozawa; T Orii; T Kobayashi
Adrenoleukodystrophy: the restoration of peroxisomal beta-oxidation by transfection of normal cDNA.
Biochemical and biophysical research communications 1995;210(3):830-6.
1995: T Hori; Shunji Tomatsu; Y Nakashima; A Uchiyama; Seiji Fukuda; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; T Horiuchi
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Genomics 1995;26(3):535-42.
1995: T Ogawa; Shunji Tomatsu; Seiji Fukuda; A Yamagishi; G M Rezvi; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; T Orü
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Human molecular genetics 1995;4(3):341-9.
1995: Shunji Tomatsu; Seiji Fukuda; A Uchiyama; T Hori; Y Nakashima; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.
Human genetics 1995;95(2):243-4.
1994: J Asano; Yasuyuki Suzuki; S Yajima; K Inoue; Nobuyuki Shimozawa; Naomi Kondo; M Murase; Tadao Orii
Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy.
Brain & development 1994;16(6):454-8.
1994: Shunji Tomatsu; Seiji Fukuda; T Ogawa; Zenichiro Kato; Koji Isogai; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Kazuko Sukegawa; Tadao Orii
A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
Human molecular genetics 1994;3(8):1427-8.
1994: A Uchiyama; Shunji Tomatsu; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Seiji Fukuda; Kazuko Sukegawa; N Taki; H Inamori; Tadao Orii
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
Human molecular genetics 1994;3(7):1183-4.
1994: A Imamura; Y Komori; Osamu Fukutomi; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Tadao Orii
Short latency somatosensory evoked potentials and 99mTc-HMPAO SPECT in a case of flunarizine-effective alternating hemiplegia in infancy.
Brain & development 1994;16(4):325-8.
1994: T Ozawa; Naomi Kondo; Y Kato; F Motoyoshi; Y Suzuki; Nobuyuki Shimozawa; Kimiko Kasahara; Tadao Orii
A wild-type mu s C-terminal gene is expressed in Bloom's syndrome cells.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 1994;21(2):133-9.
1994: Y Nakashima; Shunji Tomatsu; T Hori; Seiji Fukuda; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
Genomics 1994;20(1):99-104.
1994: Mitsuo Masuno; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Tadao Orii; T Tsukamoto; Takashi Osumi; Yukio Fujiki; K Imaizumi; Y Kuroki
Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization.
Genomics 1994;20(1):141-2.
1994: Toshifumi Aoyama; K Tsushima; M Souri; T Kamijo; Yasuyuki Suzuki; Nobuyuki Shimozawa; T Orii; Takao Hashimoto
Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase.
Biochemical and biophysical research communications 1994;198(3):1113-8.
1994: A Uchiyama; Yasuyuki Suzuki; XQ Song; Toshiyuki Fukao; A Imamura; Shunji Tomatsu; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy.
Biochemical and biophysical research communications 1994;198(2):632-6.
1994: Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yajima; Shunji Tomatsu; Naomi Kondo; Y Nakada; S Akaboshi; M Lai; Y Tanabe; Takao Hashimoto
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.
American journal of human genetics 1994;54(1):36-43.
1994: Yasuyuki Suzuki; Nobuyuki Shimozawa; I Kawabata; S Yajima; K Inoue; Y Uchida; K Izai; Shunji Tomatsu; Naomi Kondo; Tadao Orii
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Brain & development 1994;16(1):27-31.
1994: Shunji Tomatsu; Seiji Fukuda; A Uchiyama; T Hori; Y Nakashima; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Kazuko Sukegawa; Tadao Orii
Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.
Journal of inherited metabolic disease 1994;17(5):601-5.
1993: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
[Clinical and molecular aspects of peroxisome-deficient disorders].
Nihon rinsho. Japanese journal of clinical medicine 1993;51(9):2353-8.
1993: Yasuyuki Suzuki; Nobuyuki Shimozawa; K Izai; Y Uchida; K Miura; H Akatsuka; M Nagaya; S Yamaguchi; Tadao Orii
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic disease 1993;16(5):868-71.
1993: Tadao Orii; Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yajima; J Asano
[Peroxisomal disorders--DNA analysis].
Nihon rinsho. Japanese journal of clinical medicine 1993;51 Suppl():1068-77.
1992: S Yajima; Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yamaguchi; Tadao Orii; Yukio Fujiki; Takashi Osumi; Takao Hashimoto; H W Moser
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.
Human genetics 1992;88(5):491-9.
1992: Nobuyuki Shimozawa; T Tsukamoto; Yasuyuki Suzuki; Tadao Orii; Y Shirayoshi; T Mori; Yukio Fujiki
A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
Science (New York, N.Y.) 1992;255(5048):1132-4.
1992: Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yajima; Tadao Orii; S Yokota; Y Tashiro; Takashi Osumi; Takao Hashimoto
Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assembly.
Cell structure and function 1992;17(1):1-8.
1991: Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yajima; S Yamaguchi; Tadao Orii; Takao Hashimoto
Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases.
Biochemical pharmacology 1991;41(3):453-6.
1990: Tadao Orii; Yasuyuki Suzuki; Nobuyuki Shimozawa; S Yamaguchi
[Clinical, pathological and biochemical abnormality in peroxisomal disorders].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 1990;35(8):1447-54.
1989: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii; Takao Hashimoto
Major peroxisomal membrane polypeptides are synthesized in cultured skin fibroblasts from patients with Zellweger syndrome.
Pediatric research 1989;26(2):150-3.
1988: Nobuyuki Shimozawa; Yasuyuki Suzuki; Tadao Orii; S Yokota; Takao Hashimoto
Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy.
Pediatric research 1988;24(6):723-7.
1988: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii; N Igarashi; N Kono; A Matsui; Y Inoue; S Yokota; Takao Hashimoto
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.
The Journal of pediatrics 1988;113(5):841-5.
1988: Nobuyuki Shimozawa; Yasuyuki Suzuki; Tadao Orii; Takao Hashimoto
Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa.
Clinica chimica acta; international journal of clinical chemistry 1988;175(3):345-7.
1988: Nobuyuki Shimozawa; Yasuyuki Suzuki; Tadao Orii; Takao Hashimoto
Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome.
Prenatal diagnosis 1988;8(4):287-90.
1988: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii; N Igarashi; N Kono; Takao Hashimoto
Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.
Clinica chimica acta; international journal of clinical chemistry 1988;172(1):65-76.
1987: Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii; J Aikawa; K Tada; T Kuwabara; Takao Hashimoto
Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome.
Journal of inherited metabolic disease 1987;10(3):297-300.