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Nobuyuki Shimozawa

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TOP 3
Suzuki Y; Aoyama A; Kato T; Shimozawa N; Orii T
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype.
Takahashi Yuji; Seki Naomi; Ishiura Hiroyuki; Mitsui Jun; Matsukawa Takashi; Kishino Atsushi; Onodera Osamu; Aoki Masashi; Shimozawa Nobuyuki; Murayama Shigeo; Itoyama Yasuto; Suzuki Yasuyuki; Sobue Gen; Nishizawa Masatoyo; Goto Jun; Tsuji Shoji
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Saitoh Makiko; Yamashita Sumimasa; Shimozawa Nobuyuki; Mizuguchi Masashi; Iwamori Masao
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.

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All Publications

2009: Suzuki Y; Aoyama A; Kato T; Shimozawa N; Orii T
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype.
Journal of inherited metabolic disease 2009;32(4):582-3.
2008: Takahashi Yuji; Seki Naomi; Ishiura Hiroyuki; Mitsui Jun; Matsukawa Takashi; Kishino Atsushi; Onodera Osamu; Aoki Masashi; Shimozawa Nobuyuki; Murayama Shigeo; Itoyama Yasuto; Suzuki Yasuyuki; Sobue Gen; Nishizawa Masatoyo; Goto Jun; Tsuji Shoji
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: Saitoh Makiko; Yamashita Sumimasa; Shimozawa Nobuyuki; Mizuguchi Masashi; Iwamori Masao
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: Al-Dirbashi Osama Y; Santa Tomofumi; Rashed Mohamed S; Al-Hassnan Zuhair; Shimozawa Nobuyuki; Chedrawi Aziza; Jacob Minnie; Al-Mokhadab Manhal
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: Kuratsubo Izumi; Suzuki Yasuyuki; Shimozawa Nobuyuki; Kondo Naomi
Parents of childhood X-linked adrenoleukodystrophy: high risk for depression and neurosis.
Brain & development 2008;30(7):477-82.
2008: Morita M; Kanai M; Mizuno S; Iwashima M; Hayashi T; Shimozawa N; Suzuki Y; Imanaka T
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: Takahashi Norimasa; Morita Masashi; Maeda Takanori; Harayama Yuta; Shimozawa Nobuyuki; Suzuki Yasuyuki; Furuya Hirokazu; Sato Ryuichiro; Kashiwayama Yoshinori; Imanaka Tsuneo
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
Journal of neurochemistry 2007;101(6):1632-43.
2007: Shimozawa N
Molecular and clinical aspects of peroxisomal diseases.
Journal of inherited metabolic disease 2007;30(2):193-7.
2006: Shiozawa Kumiko; Goda Natsuko; Shimizu Toshiyuki; Mizuguchi Kenji; Kondo Naomi; Shimozawa Nobuyuki; Shirakawa Masahiro; Hiroaki Hidekazu
The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97.
The FEBS journal 2006;273(21):4959-71.
2006: Funato Michinori; Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Suzuki Yasuyuki; Imamura Yoshihiko; Matsumoto Tadashi; Tsukamoto Toshiro; Kojidani Tomoko; Osumi Takashi; Fukao Toshiyuki; Kondo Naomi
Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
Brain & development 2006;28(5):287-92.
2005: Ito Ritsu; Morita Masashi; Takahashi Norimasa; Shimozawa Nobuyuki; Usuda Nobuteru; Imanaka Tsuneo; Ito Masaki
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: Kashiwayama Yoshinori; Asahina Kota; Shibata Hiroyuki; Morita Masashi; Muntau Ania C; Roscher Adelbert A; Wanders Ronald J A; Shimozawa Nobuyuki; Sakaguchi Masao; Kato Hiroaki; Imanaka Tsuneo
Role of Pex19p in the targeting of PMP70 to peroxisome.
Biochimica et biophysica acta 2005;1746(2):116-28.
2005: Suzuki Yasuyuki; Takemoto Yasuhiko; Shimozawa Nobuyuki; Imanaka Tsuneo; Kato Shunichi; Furuya Hirokazu; Kaga Makiko; Kato Koji; Hashimoto Naohiro; Onodera Osamu; Tsuji Shoji
Natural history of X-linked adrenoleukodystrophy in Japan.
Brain & development 2005;27(5):353-7.
2005: Hashimoto Kazuyuki; Kato Zenichiro; Nagase Tomoko; Shimozawa Nobuyuki; Kuwata Kazuo; Omoya Kentaro; Li Ailian; Matsukuma Eiji; Yamamoto Yutaka; Ohnishi Hidenori; Tochio Hidehito; Shirakawa Masahiro; Suzuki Yasuyuki; Wanders Ronald J A; Kondo Naomi
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
Pediatric research 2005;58(2):263-9.
2005: Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Funato Michinori; Kondo Naomi; Suzuki Yasuyuki
Molecular and neurologic findings of peroxisome biogenesis disorders.
Journal of child neurology 2005;20(4):326-9.
2005: Morita Masashi; Takahashi Ikuko; Kanai Mariko; Okafuji Fumito; Iwashima Makoto; Hayashi Toshimitsu; Watanabe Shiro; Hamazaki Tomohito; Shimozawa Nobuyuki; Suzuki Yasuyuki; Furuya Hirokazu; Yamada Takeshi; Imanaka Tsuneo
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: Kato Tomomi; Kato Zenichiro; Kuratsubo Izumi; Tanaka Noboru; Ishigami Tabito; Kajihara Jun-Ichi; Sukegawa-Hayasaka Kazuko; Orii Koji; Isogai Koji; Fukao Toshiyuki; Shimozawa Nobuyuki; Orii Tadao; Kondo Naomi; Suzuki Yasuyuki
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Journal of human genetics 2005;50(8):395-402.
2004: Shimozawa Nobuyuki; Tsukamoto Toshiro; Nagase Tomoko; Takemoto Yasuhiko; Koyama Naoki; Suzuki Yasuyuki; Komori Masayuki; Osumi Takashi; Jeannette Gootjes; Wanders Ronald J A; Kondo Naomi
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: Nagase Tomoko; Shimozawa Nobuyuki; Takemoto Yasuhiko; Suzuki Yasuyuki; Komori Masayuki; Kondo Naomi
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: Gootjes Jeannette; Elpeleg Orly; Eyskens François; Mandel Hanna; Mitanchez Delphine; Shimozawa Noboyuki; Suzuki Yasuyuki; Waterham Hans R; Wanders Ronald J A
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Pediatric research 2004;55(3):431-6.
2004: Kikuchi Miki; Hatano Naoya; Yokota Sadaki; Shimozawa Nobuyuki; Imanaka Tsuneo; Taniguchi Hisaaki
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: Takemoto Yasuhiko; Suzuki Yasuyuki; Horibe Ryoko; Shimozawa Nobuyuki; Wanders Ronald J A; Kondo Naomi
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: Matsumoto Naomi; Tamura Shigehiko; Furuki Satomi; Miyata Non; Moser Ann; Shimozawa Nobuyuki; Moser Hugo W; Suzuki Yasuyuki; Kondo Naomi; Fujiki Yukio
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: Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Ohura Toshihiro; Suzuki Yasuyuki; Kondo Naomi
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: Shiroma Naohide; Kanazawa Naomi; Kato Zenichiro; Shimozawa Nobuyuki; Imamura Atsushi; Ito Masayuki; Ohtani Kyoich; Oka Akira; Wakabayashi Kazuyo; Iai Mizue; Sugai Kenji; Sasaki Masayuki; Kaga Makiko; Ohta Takao; Tsujino Seiichi
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
Brain & development 2003;25(2):116-21.
2003: Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Suzuki Yasuyuki; Kondo Naomi
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: Orii Kenji E; Kato Zenichiro; Osamu Fukutomi; Funato Michinori; Kubodera Uniko; Inoue Ryosuke; Shimozawa Nobuyuki; Kondo Naomi
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: Raas-Rothschild Annick; Wanders Ronald J A; Mooijer Petra A W; Gootjes Jeannette; Waterham Hans R; Gutman Alisa; Suzuki Yasuyuki; Shimozawa Nobuyuki; Kondo Naomi; Eshel Gideon; Espeel Marc; Roels Frank; Korman Stanley H
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: Shimozawa Nobuyuki; Nagase Tomoko; Takemoto Yasuhiko; Suzuki Yasuyuki; Fujiki Yukio; Wanders Ronald J A; Kondo Naomi
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: Suzuki Yasuyuki; Iai Mizue; Kamei Atsushi; Tanabe Yuzo; Chida Shoichi; Yamaguchi Seiji; Zhang Zhongyi; Takemoto Yasuhiko; Shimozawa Nobuyuki; Kondo Naomi
Peroxisomal acyl CoA oxidase deficiency.
The Journal of pediatrics 2002;140(1):128-30.
2002: Shimozawa Nobuyuki
[Neurocutaneous syndrome(tuberous sclerosis and Sturge-Weber syndrome)]
Ryoikibetsu shokogun shirizu 2002;(37 Pt 6):130-2.
2002: Takemoto Yasuhiko; Suzuki Yasuyuki; Tamakoshi Akiko; Onodera Osamu; Tsuji Shoji; Hashimoto Takashi; Shimozawa Nobuyuki; Orii Tadao; Kondo Naomi
Epidemiology of X-linked adrenoleukodystrophy in Japan.
Journal of human genetics 2002;47(11):590-3.
2001: Suzuki Y; Shimozawa N; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Kondo N
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: Tamura S; Matsumoto N; Imamura A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
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: Shimozawa N
[Phenotype--genotype relationships in peroxisome biogenesis disorders]
No to shinkei = Brain and nerve 2001;53(5):411-20.
2001: Suzuki Y; Shimozawa N; Imamura A; Fukuda S; Zhang Z; Orii T; Kondo N
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Journal of inherited metabolic disease 2001;24(2):151-65.
2001: Suzuki Y; Imamura A; Shimozawa N; Kondo N
The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil.
Brain & development 2001;23(1):30-3.
2001: Matsumoto N; Tamura S; Moser A; Moser H W; Braverman N; Suzuki Y; Shimozawa N; Kondo N; Fujiki Y
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
Journal of human genetics 2001;46(5):273-7.
2000: Fujiwara C; Imamura A; Hashiguchi N; Shimozawa N; Suzuki Y; Kondo N; Imanaka T; Tsukamoto T; Osumi T
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
The Journal of biological chemistry 2000;275(47):37271-7.
2000: Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Wanders R J; Kondo N
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: Ghaedi K; Honsho M; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
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: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Ghaedi K; Fujiki Y; Kondo N
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: Suzuki Y; Isogai K; Teramoto T; Tashita H; Shimozawa N; Nishimura M; Asano T; Oda M; Kamei A; Ishiguro H; Kato S; Ohashi T; Kobayashi H; Eto Y; Kondo N
Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.
Journal of inherited metabolic disease 2000;23(5):453-8.
2000: Tanaka Y; Suzuki Y; Shimozawa N; Nanba E; Kondo N
Congenital myotonic dystrophy: report of paternal transmission.
Brain & development 2000;22(2):132-4.
2000: Shimozawa N; Zhang Z; Imamura A; Suzuki Y; Fujiki Y; Tsukamoto T; Osumi T; Aubourg P; Wanders R J; Kondo N
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: Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Kondo N
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.
2000: Yamada T; Shinnoh N; Kondo A; Uchiyama A; Shimozawa N; Kira J; Kobayashi T
Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.
Cell biochemistry and biophysics 2000;32 Spring():239-46.
2000: Osumi T; Imamura A; Tsukamoto T; Fujiwara C; Hashiguchi N; Shimozawa N; Suzuki Y; Kondo N
Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
Cell biochemistry and biophysics 2000;32 Spring():165-70.
2000: Shimozawa N
[Carpenter syndrome (acrocephalopolysyndactyly type II)]
Ryoikibetsu shokogun shirizu 2000;(28 Pt 3):571-3.
2000: Suzuki Y; Shimozawa N; Imamura A; Kondo N
[Peroxisomal disorders]
Ryoikibetsu shokogun shirizu 2000;(29 Pt 4):452-9.
1999: Kondo N; Suzuki Y; Shimozawa N; Takahashi Y; Fukao T
[Genetics of neurologic disorders in children]
Nippon rinsho. Japanese journal of clinical medicine 1999;57 Suppl():700-6.
1999: Kato Z; Yasuda K; Ishii K; Takagi H; Mizuno S; Shimozawa N; Kondo N
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: Shimozawa N; Imamura A; Zhang Z; Suzuki Y; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Wanders R J; Besley G; Kondo N
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: Toyama R; Mukai S; Itagaki A; Tamura S; Shimozawa N; Suzuki Y; Kondo N; Wanders R J; Fujiki Y
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.
Human molecular genetics 1999;8(9):1673-81.
1999: Shimozawa N; Zhang Z; Suzuki Y; Imamura A; Tsukamoto T; Osumi T; Fujiki Y; Orii T; Barth P G; Wanders R J; Kondo N
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
Biochemical and biophysical research communications 1999;262(2):504-8.
1999: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Toyama R; Mukai S; Fujiki Y; Tsukamoto T; Osumi T; Orii T; Wanders R J; Kondo N
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: Wanders R J; Mooijer P A; Dekker C; Suzuki Y; Shimozawa N
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: Ghaedi K; Kawai A; Okumoto K; Tamura S; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
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: Ghaedi K; Itagaki A; Toyama R; Tamura S; Matsumura T; Kawai A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
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: Suzuki Y; Shimozawa N; Imamura A; Zhang Z; Kondo N
[Newly identified peroxisomal disorders]
No to shinkei = Brain and nerve 1999;51(4):295-302.
1999: Matsuzono Y; Kinoshita N; Tamura S; Shimozawa N; Hamasaki M; Ghaedi K; Wanders R J; Suzuki Y; Kondo N; Fujiki Y
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: Yamada T; Taniwaki T; Shinnoh N; Uchiyama A; Shimozawa N; Ohyagi Y; Asahara H; Kira J
Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome.
Neurology 1999;52(3):614-6.
1999: Zhang Z; Suzuki Y; Shimozawa N; Fukuda S; Imamura A; Tsukamoto T; Osumi T; Fujiki Y; Orii T; Wanders R J; Barth P G; Moser H W; Paton B C; Besley G T; Kondo N
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: Suzuki Y; Zhang Z; Shimozawa N; Muro M; Shono H; Toda S; Miyahara S; Hashimoto T; Usuda N; Ito M; Takashima S; Kondo N
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: Shimozawa N; Suzuki Y; Zhang Z; Miura K; Matsumoto A; Nagaya M; Castillo-Taucher S; Kondo N
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: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Kondo N; Kinoshita N; Fujiki Y; Tsukamoto T; Osumi T; Imanaka T; Orii T; Beemer F; Mooijer P; Dekker C; Wanders R J
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: Honsho M; Tamura S; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
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: Imamura A; Tamura S; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Orii T; Kondo N; Osumi T; Fujiki Y
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
Human molecular genetics 1998;7(13):2089-94.
1998: Yamada Y; Inoue R; Fukao T; Kaneko H; Isogai K; Fukuda S; Shimozawa N; Suzuki Y; Kondo N; Azuma E; Sakurai M
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: Kinoshita N; Ghaedi K; Shimozawa N; Wanders R J; Matsuzono Y; Imanaka T; Okumoto K; Suzuki Y; Kondo N; Fujiki Y
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: Okumoto K; Itoh R; Shimozawa N; Suzuki Y; Tamura S; Kondo N; Fujiki Y
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Human molecular genetics 1998;7(9):1399-405.
1998: Okumoto K; Shimozawa N; Kawai A; Tamura S; Tsukamoto T; Osumi T; Moser H; Wanders R J; Suzuki Y; Kondo N; Fujiki Y
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: Tamura S; Shimozawa N; Suzuki Y; Tsukamoto T; Osumi T; Fujiki Y
A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p.
Biochemical and biophysical research communications 1998;245(3):883-6.
1998: Tamura S; Okumoto K; Toyama R; Shimozawa N; Tsukamoto T; Suzuki Y; Osumi T; Kondo N; Fujiki Y
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: Mizuno S; Goto H; Hoshi H; Yamada N; Kato Z; Takahashi Y; Shimozawa N; Kondo N
[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: Shimozawa N
[Molecular analysis of peroxisomal disorders]
No to hattatsu. Brain and development 1998;30(2):128-33.
1998: Fukuda S; Suzuki Y; Shimozawa N; Zhang Z; Orii T; Aoyama T; Hashimoto T; Kondo N
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: Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Tsukamoto T; Osumi T; Tateishi K; Okumoto K; Fujiki Y; Orii T; Barth P G; Wanders R J; Kondo N
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: Shimozawa N
[Dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency and alkyl-DHAP synthase deficiency]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):313-4.
1998: Shimozawa N
[Rhizomelic chondrodysplasia punctata (RCDP)]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):310-2.
1998: Shimozawa N
[Infantile Refsum disease]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):308-9.
1998: Shimozawa N
[Neonatal adrenoleukodystrophy]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):305-7.
1998: Shimozawa N
[Zellweger syndrome]
Ryoikibetsu shokogun shirizu 1998;(19 Pt 2):299-304.
1998: Shimozawa N; Suzuki Y; Tomatsu S; Nakamura H; Kono T; Takada H; Tsukamoto T; Fujiki Y; Orii T; Kondo N
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Human mutation 1998;Suppl 1():S134-6.
1998: Tomatsu S; Fukuda S; Cooper A; Wraith J E; Yamagishi A; Kato Z; Yamada N; Isogai K; Sukegawa K; Suzuki Y; Shimozawa N; Kondo N; Orii T
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.
Human mutation 1998;Suppl 1():S42-6.
1997: Suzuki Y; Lee K; Shimozawa N; Orii T; Kondo N
Biochemical and immunocytochemical properties of peroxisomes and mitochondria in bovine chromaffin cells.
Cell structure and function 1997;22(6):615-9.
1997: Kaneko H; Orii K O; Matsui E; Shimozawa N; Fukao T; Matsumoto T; Shimamoto A; Furuichi Y; Hayakawa S; Kasahara K; Kondo N
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: Suzuki Y; Jiang L L; Souri M; Miyazawa S; Fukuda S; Zhang Z; Une M; Shimozawa N; Kondo N; Orii T; Hashimoto T
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: Tateishi K; Okumoto K; Shimozawa N; Tsukamoto T; Osumi T; Suzuki Y; Kondo N; Okano I; Fujiki Y
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: Imamura A; Suzuki Y; Song X Q; Fukao T; Uchiyama A; Shimozawa N; Kamijo K; Hashimoto T; Orii T; Kondo N
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: Okumoto K; Bogaki A; Tateishi K; Tsukamoto T; Osumi T; Shimozawa N; Suzuki Y; Orii T; Fujiki Y
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: Fukuda S; Yamada Y; Nishimura M; Isogai K; Terada T; Iwata M; Shimozawa N; Suzuki Y; Kondo N
Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia.
Clinical genetics 1997;51(4):278-80.
1997: Takahashi Y; Suzuki Y; Kumazaki K; Tanabe Y; Akaboshi S; Miura K; Shimozawa N; Kondo N; Nishiguchi T; Terada K; Orii T
Epilepsy in peroxisomal diseases.
Epilepsia 1997;38(2):182-8.
1997: Tsukamoto T; Bogaki A; Okumoto K; Tateishi K; Fujiki Y; Shimozawa N; Suzuki Y; Kondo N; Osumi T
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: Tomatsu S; Fukuda S; Cooper A; Wraith J E; Ferreira P; Di Natale P; Tortora P; Fujimoto A; Kato Z; Yamada N; Isogai K; Yamagishi A; Sukegawa K; Suzuki Y; Shimozawa N; Kondo N; Sly W S; Orii T
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Human mutation 1997;10(5):368-75.
1997: Sukegawa K; Song X Q; Masuno M; Fukao T; Shimozawa N; Fukuda S; Isogai K; Nishio H; Matsuo M; Tomatsu S; Kondo N; Orii T
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: Suzuki Y; Shimozawa N; Takahashi Y; Imamura A; Kondo N; Orii T
Peroxisomal disorders: clinical aspects.
Annals of the New York Academy of Sciences 1996;804():442-9.
1996: 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
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: Inoue K; Suzuki Y; Yajima S; Shimozawa N; Tomatsu S; Orii T; Kondo N
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: Fukao T; Sakai S; Shimozawa N; Kuwahara T; Kano M; Goto E; Nakashima Y; Katagiri-Kawade M; Ichihashi H; Masuno M; Orii T; Kondo N
Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
Clinical genetics 1996;50(4):244-7.
1996: Suzuki Y; Shimozawa N; Imamura A; Fukuda Y; Ichihashi H; Orii T; Kondo N
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: Shimozawa N; Suzuki Y; Tomatsu S; Tsukamoto T; Osumi T; Fujiki Y; Kamijo K; Hashimoto T; Kondo N; Orii T
Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.
Pediatric research 1996;39(5):812-5.
1996: Tomatsu S; Fukuda S; Yamagishi A; Cooper A; Wraith J F; Hori T; Kato Z; Yamada N; Isogai K; Sukegawa K; Kondo N; Suzuki Y; Shimozawa N; Orii T
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: Suzuki Y; Shimozawa N; Yajima S; Inoue K; Orii T; Kondo N
Incidence of peroxisomal disorders in Japan.
The Japanese journal of human genetics 1996;41(1):167-75.
1996: Imamura A; Suzuki Y; Song X Q; Fukao T; Shimozawa N; Orii T; Kondo N
Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.
Prenatal diagnosis 1996;16(3):259-61.
1996: Fukuda S; Tomatsu S; Masuno M; Ogawa T; Yamagishi A; Rezvi G M; Sukegawa K; Shimozawa N; Suzuki Y; Kondo N; Imaizumi K; Kuroki Y; Okabe T; Orii T
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: Rezvi G M; Tomatsu S; Fukuda S; Yamagishi A; Cooper A; Wraith J E; Iwata H; Kato Z; Yamada N; Sukegawa K; Shimozawa N; Suzuki Y; Kondo N; Orii T
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: Yamagishi A; Tomatsu S; Fukuda S; Uchiyama A; Shimozawa N; Suzuki Y; Kondo N; Sukegawa K; Orii T
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
Human mutation 1996;7(1):23-9.
1995: Tsukamoto T; Miura S; Nakai T; Yokota S; Shimozawa N; Suzuki Y; Orii T; Fujiki Y; Sakai F; Bogaki A; Yasumo H; Osumi T
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: Song X Q; Fukao T; Suzuki Y; Imamura A; Uchiyama A; Shimozawa N; Kondo N; Orii T
Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.
Human molecular genetics 1995;4(6):1093-4.
1995: Shinnoh N; Yamada T; Yoshimura T; Furuya H; Yoshida Y; Suzuki Y; Shimozawa N; Orii T; Kobayashi T
Adrenoleukodystrophy: the restoration of peroxisomal beta-oxidation by transfection of normal cDNA.
Biochemical and biophysical research communications 1995;210(3):830-6.
1995: Hori T; Tomatsu S; Nakashima Y; Uchiyama A; Fukuda S; Sukegawa K; Shimozawa N; Suzuki Y; Kondo N; Horiuchi T
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Genomics 1995;26(3):535-42.
1995: Ogawa T; Tomatsu S; Fukuda S; Yamagishi A; Rezvi G M; Sukegawa K; Kondo N; Suzuki Y; Shimozawa N; Orü T
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Human molecular genetics 1995;4(3):341-9.
1995: Tomatsu S; Fukuda S; Uchiyama A; Hori T; Nakashima Y; Sukegawa K; Kondo N; Suzuki Y; Shimozawa N; Orii T
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: Asano J; Suzuki Y; Yajima S; Inoue K; Shimozawa N; Kondo N; Murase M; Orii T
Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy.
Brain & development 1994;16(6):454-8.
1994: Tomatsu S; Fukuda S; Ogawa T; Kato Z; Isogai K; Kondo N; Suzuki Y; Shimozawa N; Sukegawa K; Orii T
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: Uchiyama A; Tomatsu S; Kondo N; Suzuki Y; Shimozawa N; Fukuda S; Sukegawa K; Taki N; Inamori H; Orii T
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: Imamura A; Komori Y; Fukutomi O; Shimozawa N; Suzuki Y; Kondo N; Orii T
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: Ozawa T; Kondo N; Kato Y; Motoyoshi F; Suzuki Y; Shimozawa N; Kasahara K; Orii T
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: Nakashima Y; Tomatsu S; Hori T; Fukuda S; Sukegawa K; Kondo N; Suzuki Y; Shimozawa N; Orii T
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: Masuno M; Shimozawa N; Suzuki Y; Kondo N; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Imaizumi K; Kuroki Y
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: Aoyama T; Tsushima K; Souri M; Kamijo T; Suzuki Y; Shimozawa N; Orii T; Hashimoto T
Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase.
Biochemical and biophysical research communications 1994;198(3):1113-8.
1994: Uchiyama A; Suzuki Y; Song X Q; Fukao T; Imamura A; Tomatsu S; Shimozawa N; Kondo N; Orii T
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: Suzuki Y; Shimozawa N; Yajima S; Tomatsu S; Kondo N; Nakada Y; Akaboshi S; Lai M; Tanabe Y; Hashimoto T
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: Suzuki Y; Shimozawa N; Kawabata I; Yajima S; Inoue K; Uchida Y; Izai K; Tomatsu S; Kondo N; Orii T
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Brain & development 1994;16(1):27-31.
1994: Tomatsu S; Fukuda S; Uchiyama A; Hori T; Nakashima Y; Kondo N; Suzuki Y; Shimozawa N; Sukegawa K; Orii T
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: Suzuki Y; Shimozawa N; Orii T
[Clinical and molecular aspects of peroxisome-deficient disorders]
Nippon rinsho. Japanese journal of clinical medicine 1993;51(9):2353-8.
1993: Orii T; Suzuki Y; Shimozawa N; Yajima S; Asano J
[Peroxisomal disorders--DNA analysis]
Nippon rinsho. Japanese journal of clinical medicine 1993;51 Suppl():1068-77.
1993: Suzuki Y; Shimozawa N; Izai K; Uchida Y; Miura K; Akatsuka H; Nagaya M; Yamaguchi S; Orii T
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.
1992: Yajima S; Suzuki Y; Shimozawa N; Yamaguchi S; Orii T; Fujiki Y; Osumi T; Hashimoto T; Moser H W
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.
Human genetics 1992;88(5):491-9.
1992: Suzuki Y; Shimozawa N; Yajima S; Orii T; Yokota S; Tashiro Y; Osumi T; Hashimoto T
Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assembly.
Cell structure and function 1992;17(1):1-8.
1992: Shimozawa N; Tsukamoto T; Suzuki Y; Orii T; Shirayoshi Y; Mori T; Fujiki Y
A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
Science (New York, N.Y.) 1992;255(5048):1132-4.
1991: Suzuki Y; Shimozawa N; Yajima S; Yamaguchi S; Orii T; Hashimoto T
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: Orii T; Suzuki Y; Shimozawa N; Yamaguchi S
[Clinical, pathological and biochemical abnormality in peroxisomal disorders]
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 1990;35(8):1447-54.
1989: Suzuki Y; Shimozawa N; Orii T; Hashimoto T
Major peroxisomal membrane polypeptides are synthesized in cultured skin fibroblasts from patients with Zellweger syndrome.
Pediatric research 1989;26(2):150-3.
1988: Shimozawa N; Suzuki Y; Orii T; Yokota S; Hashimoto T
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: Suzuki Y; Shimozawa N; Orii T; Igarashi N; Kono N; Matsui A; Inoue Y; Yokota S; Hashimoto T
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.
The Journal of pediatrics 1988;113(5):841-5.
1988: Shimozawa N; Suzuki Y; Orii T; Hashimoto T
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: Shimozawa N; Suzuki Y; Orii T; Hashimoto T
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: Suzuki Y; Shimozawa N; Orii T; Igarashi N; Kono N; Hashimoto T
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: Suzuki Y; Shimozawa N; Orii T; Aikawa J; Tada K; Kuwabara T; Hashimoto T
Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome.
Journal of inherited metabolic disease 1987;10(3):297-300.

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