Y. Suzuki

发表

Rapid isolation and characterization of CHO mutants deficient in peroxisome biogenesis using the peroxisomal forms of fluorescent proteins.

R. Ito, M. Ito, Y. Huang, 2000, Biochimica et biophysica acta.

Mutation detection by TaqMan‐allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium‐chain acyl‐CoA dehydrogenase deficiency

Y. Matsubara, P. Rinaldo, Y. Suzuki, 2000, Human mutation.

Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene.

T. Imanaka, R. Ito, M. Ito, 2001, Biochemical and biophysical research communications.

Immunohistochemical expression of peroxisomal enzymes in developing human brain.

S. Takashima, Y. Suzuki, S. Houdou, 1993, Molecular and chemical neuropathology.

Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assembly.

Y. Suzuki, N. Shimozawa, T. Osumi, 1992, Cell structure and function.

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

T. Hashimoto, S. Miyazawa, Y. Suzuki, 1997, American journal of human genetics.

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.

K. Ghaedi, A. Imamura, Y. Suzuki, 2000, Human molecular genetics.

Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.

T. Hashimoto, Y. Suzuki, N. Shimozawa, 1988, Clinica chimica acta; international journal of clinical chemistry.

Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity

Y. Suzuki, T. Orii, A. Ohtake, 1986, European Journal of Pediatrics.

Gene structure and expression of the targeting subunit, RGL, of the muscle-specific glycogen-associated type 1 protein phosphatase, PP1G.

A. Depaoli-Roach, Y. Suzuki, C. Lannér, 2001, Archives of biochemistry and biophysics.

Two novel missense mutations in the ATP‐binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

T. Hashimoto, K. Kamijo, A. Imamura, 1997, Clinical genetics.

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

N. Shimizu, E. Holme, M. Hiratsuka, 2000, European Journal of Pediatrics.

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

T. Suormala, E. R. Baumgartner, Xia Li, 1999, Human Genetics.

Expression of Secreted Immunoglobulin Heavy Chain Genes and Immunoglobulin‐Secreting Cells in Human Lymphocytes

Y. Suzuki, N. Shimozawa, N. Kondo, 1993, Scandinavian journal of immunology.

Epilepsy in Peroxisomal Diseases

T. Nishiguchi, Y. Suzuki, N. Shimozawa, 1997, Epilepsia.

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Human molecular genetics.

An extremely severe case of cutaneous calcinosis with juvenile dermatomyositis, and successful treatment with diltiazem

Y. Suzuki, N. Shimozawa, N. Kondo, 2001, The British journal of dermatology.

[Peroxisomal disorders].

A. Imamura, Y. Suzuki, N. Shimozawa, 2000, Ryoikibetsu shokogun shirizu.

Intravenous Immunoglobulins Suppress Immunoglobulin Productions by Suppressing Ca2+ ‐Dependent Signal Transduction Through Fc γ Receptors in B Lymphocytes

Y. Suzuki, N. Shimozawa, K. Kasahara, 1994, Scandinavian journal of immunology.

Comparison of allergic diseases and specific IgE antibodies in different parts of Japan.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Annals of allergy.

Glycogen storage disease type Ib without neutropenia.

M. Hiratsuka, Y. Matsubara, Y. Suzuki, 2000, The Journal of pediatrics.

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

R. Wanders, R. Wanders, T. Tsukamoto, 1999, Human molecular genetics.

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

R. Wanders, A. Imamura, Y. Suzuki, 1998, Biochemical and biophysical research communications.

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

Xia Li, H. Kondo, Y. Suzuki, 1996, Clinica chimica acta; international journal of clinical chemistry.

A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p.

Y. Suzuki, N. Shimozawa, S. Tamura, 1998, Biochemical and biophysical research communications.

Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

R. Wanders, R. Wanders, T. Tsukamoto, 1999, Biochemical and biophysical research communications.

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

T. Hashimoto, Y. Suzuki, N. Shimozawa, 1994, American journal of human genetics.

Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.

R. Wanders, Y. Suzuki, N. Shimozawa, 1999, Human molecular genetics.

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

Y. Matsubara, Y. Suzuki, K. Narisawa, 1999, American journal of medical genetics.

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Y. Matsubara, Y. Suzuki, K. Narisawa, 1998, Biochemical and biophysical research communications.

Peroxisomal disorders in children: immunohistochemistry and neuropathology.

L. Becker, S. Takashima, Y. Suzuki, 1993, The Journal of pediatrics.

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.

R. Wanders, R. Wanders, K. Ghaedi, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

Y. Suzuki, N. Shimozawa, S. Tamura, 1998, American journal of human genetics.

Biosynthesis of membrane polypeptides of rat liver peroxisomes.

M. Takiguchi, M. Hijikata, Y. Suzuki, 1987, Journal of biochemistry.

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

R. Giugliani, Y. Suzuki, S. Velez-Castrillon, 2005, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

Y. Suzuki, Yasuyuki Suzuki, W. Mackenzie, 2011, Current pharmaceutical biotechnology.

Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases.

T. Hashimoto, Y. Suzuki, N. Shimozawa, 1991, Biochemical pharmacology.

Identification of holocarboxylase synthetase (HCS) proteins in human placenta.

M. Hiratsuka, Y. Suzuki, K. Narisawa, 1998, Biochimica et biophysica acta.

Purification and properties of bovine liver holocarboxylase synthetase.

Y. Suzuki, K. Narisawa, Y. Aoki, 1994, Archives of biochemistry and biophysics.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

T. Suormala, E. R. Baumgartner, U. Stephani, 2003, Molecular genetics and metabolism.

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Kazutoshi Takahashi, Xia Li, R. Sakuta, 1995, Biochimica et biophysica acta.

Neuroradiological Findings in Glutaric Aciduria Type I: Report of Four Japanese Patients

Y. Suzuki, Yasuyuki Suzuki, S. Yamaguchi, 1992, Acta paediatrica Japonica : Overseas edition.

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Y. Suzuki, K. Narisawa, Y. Aoki, 1996, Nihon rinsho. Japanese journal of clinical medicine.

Neonatal form of biotin-responsive multiple carboxylase deficiency.

Y. Suzuki, K. Narisawa, K. Tada, 1992, Journal of nutritional science and vitaminology.

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

N. Shimizu, M. Hiratsuka, J. Kudoh, 1998, Journal of Inherited Metabolic Disease.

Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

W. Hwu, Y. Suzuki, K. Narisawa, 2000, Journal of the Formosan Medical Association = Taiwan yi zhi.

Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype

Y. Suzuki, N. Shimozawa, T. Kato, 2009, Journal of Inherited Metabolic Disease.

[Refsum disease].

Y. Suzuki, 2019, Nihon rinsho. Japanese journal of clinical medicine.

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

Y. Kuroki, T. Tsukamoto, Y. Suzuki, 1996, American journal of human genetics.

A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

T. Tsukamoto, Y. Suzuki, N. Shimozawa, 1992, Science.

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

H. Moser, A. Moser, R. Wanders, 1993, American journal of human genetics.

Prenatal diagnosis of peroxisome biogenesis disorders by means of immunofluorescence staining of cultured chorionic villous cells

Y. Suzuki, N. Shimozawa, N. Kondo, 1999, Clinical genetics.

Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly.

Y. Suzuki, N. Shimozawa, M. Masuno, 1992, Experimental cell research.

Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes.

M. Tsuneoka, Y. Suzuki, Y. Tashiro, 1990, Cell structure and function.

Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.

T. Hashimoto, Y. Suzuki, N. Shimozawa, 1988, The Journal of pediatrics.

Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

T. Imanaka, T. Tsukamoto, A. Imamura, 1998, American journal of human genetics.

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

A. Imamura, Y. Suzuki, N. Shimozawa, 2001, Journal of Inherited Metabolic Disease.

Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)

R. Wanders, Y. Suzuki, N. Shimozawa, 1999, Journal of Inherited Metabolic Disease.

Isolation and characterization of novel peroxisome biogenesis-defective Chinese hamster ovary cell mutants using green fluorescent protein.

K. Ghaedi, Y. Suzuki, N. Shimozawa, 1999, Experimental cell research.

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.

R. Wanders, R. Wanders, T. Imanaka, 1998, American journal of human genetics.

Isolation and characterization of peroxisome-deficient Chinese hamster ovary cell mutants representing human complementation group III.

Y. Suzuki, N. Shimozawa, K. Okumoto, 1997, Experimental cell research.

Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.

Y. Suzuki, N. Shimozawa, Y. Fujiki, 1992, The Journal of clinical investigation.

Adrenoleukodystrophy: the restoration of peroxisomal beta-oxidation by transfection of normal cDNA.

Y. Suzuki, N. Shimozawa, T. Yamada, 1995, Biochemical and biophysical research communications.

Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid β-oxidation

T. Imanaka, Y. Suzuki, N. Shimozawa, 2008, Journal of Inherited Metabolic Disease.

Very long chain fatty acid analysis of dried blood spots on filter paper to screen for adrenoleukodystrophy.

Y. Suzuki, N. Shimozawa, N. Kondo, 1997, Clinical chemistry.

Deficient activities and proteins of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome.

T. Hashimoto, Y. Suzuki, M. Mori, 1986, Clinica chimica acta; international journal of clinical chemistry.

Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy.

A. Imamura, Y. Suzuki, N. Shimozawa, 1994, Biochemical and biophysical research communications.

Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders

A. Imamura, Y. Suzuki, N. Shimozawa, 2001, Journal of medical genetics.

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.

K. Ghaedi, Y. Suzuki, N. Shimozawa, 1999, Experimental cell research.

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

T. Tsukamoto, A. Imamura, Y. Suzuki, 1998, Human molecular genetics.

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

Y. Suzuki, N. Shimozawa, K. Okumoto, 1998, Human molecular genetics.

Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

T. Tsukamoto, Y. Suzuki, N. Shimozawa, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

J. Christodoulou, A. Poulos, Y. Suzuki, 1995, The Journal of pediatrics.

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

Y. Suzuki, N. Shimozawa, N. Kondo, 1995, Human molecular genetics.

A WILD‐TYPE μs C‐TERMINAL GENE IS EXPRESSED IN BLOOM'S SYNDROME CELLS

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

K. Ghaedi, Y. Suzuki, N. Shimozawa, 2000, American journal of human genetics.

Newly identified Chinese hamster ovary cell mutants defective in peroxisome biogenesis represent two novel complementation groups in mammals.

Y. Suzuki, N. Shimozawa, K. Okumoto, 1997, European journal of cell biology.

Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome

Y. Suzuki, N. Shimozawa, K. Tada, 1987, Journal of Inherited Metabolic Disease.

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

Y Fujiki, A. Imamura, Y. Suzuki, 2001, The Biochemical journal.

Biosynthesis of peroxisomal β-oxidation enzymes in infants with zellweger syndrome

T. Hashimoto, Y. Suzuki, T. Orii, 1986, Journal of Inherited Metabolic Disease.

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Kazutoshi Takahashi, M. Ogasawara, Y. Matsubara, 2000, American journal of medical genetics.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Y. Matsubara, Y. Suzuki, K. Narisawa, 2000, American journal of medical genetics.

Suppressive effects of elimination diets on T cell responses to ovalbumin in hen's egg‐sensitive atopic dermatitis patients

M. Takemura, Y. Suzuki, N. Shimozawa, 1993, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations

Y. Suzuki, N. Shimozawa, N. Kondo, 1996, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Y. Suzuki, N. Shimozawa, N. Kondo, 1996, American journal of human genetics.

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).

Y. Suzuki, N. Shimozawa, N. Kondo, 1995, Genomics.

Suppression of IgA production by lymphocytes induced by diphenylhydantoin.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Journal of investigational allergology & clinical immunology.

Molecular analysis by Southern blot for theN-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Journal of Inherited Metabolic Disease.

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Human molecular genetics.

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Genomics.

Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients

Y. Suzuki, H. Mugishima, T. Kato, 2007, Journal of the European Academy of Dermatology and Venereology : JEADV.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

T. Taketani, J. Grubb, R. Giugliani, 2005, Journal of Inherited Metabolic Disease.

Structure and expression of the glycine cleavage system in rat central nervous system.

K. Hisanaga, J. Satoh, Kohji Sato, 2001, Brain research. Molecular brain research.

D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.

S. Takashima, Y. Suzuki, N. Shimozawa, 2001, The Journal of pediatrics.

Biochemical and immunocytochemical properties of peroxisomes and mitochondria in bovine chromaffin cells.

Y. Suzuki, N. Shimozawa, N. Kondo, 1997, Cell structure and function.

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

T Hashimoto, H. Moser, R. Wanders, 1999, American journal of human genetics.

Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase.

T. Hashimoto, T. Aoyama, Y. Suzuki, 1994, Biochemical and biophysical research communications.

Urinary organic acids in peroxisomal disorders: a simple screening method.

Y. Suzuki, N. Shimozawa, T. Fukao, 2001, Journal of chromatography. B, Biomedical sciences and applications.

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.

Y. Suzuki, N. Shimozawa, H. Kaneko, 1998, Pediatric hematology and oncology.

[Newly identified peroxisomal disorders].

A. Imamura, Y. Suzuki, N. Shimozawa, 1999, No to shinkei = Brain and nerve.

Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient.

R. Wanders, A. Imamura, Y. Suzuki, 2000, Biochemical and biophysical research communications.

Use of buccal smears for rapid detection of peroxisomes.

Y. Suzuki, N. Shimozawa, N. Kondo, 1997, European journal of pediatrics.

Purification and properties of bovine and human holocarboxylase synthetases.

Y. Suzuki, K. Narisawa, 1997, Methods in enzymology.