K. Sukegawa

发表

Clinical and molecular analysis of a Japanese boy with Morquio B disease

F. Endo, I. Matsuda, A. Oshima, 1995, Clinical genetics.

β-Galactosidase-deficient mouse as an animal model for GM1-gangliosidosis

Yoshiyuki Suzuki, J. Matsuda, A. Ogura, 1997, Glycoconjugate Journal.

to human and mouse β-glucuronidase

W. Sly, J. Grubb, K. Orii, 2006 .

Production of MPS VII mouse (Gustm(hE540A.mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase

W. Sly, J. Grubb, K. Orii, 2003 .

human and mouse b-glucuronidase

W. Sly, J. Grubb, K. Orii, 2003 .

Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients.

S. Yamaguchi, T. Taketomi, K. Sukegawa, 1999, Journal of Chromatography B: Biomedical Sciences and Applications.

Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients

S. Yamaguchi, T. Taketomi, K. Sukegawa, 2002, Brain and Development.

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

T. Sasaki, S. Fukuda, S. Yamaguchi, 1991, American journal of human genetics.

Mass screening test for mucopolysaccharidoses using the 1,9-dimethylmethylene blue method: positive interference from paper diapers.

N. Kondo, T. Sasaki, A. Noma, 1997, Clinica chimica acta; international journal of clinical chemistry.

Acid sphingomyelinase is not essential for the IL-1 and tumor necrosis factor receptor signaling pathway leading to NFkB activation.

K. Matsushima, Y. Ishikawa, K. Kuno, 1994, International immunology.

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.

Enzymes of Ketone Body Utilization in Human Tissues: Protein and Messenger RNA Levels of Succinyl-Coenzyme A (CoA):3-Ketoacid CoA Transferase and Mitochondrial and Cytosolic Acetoacetyl-CoA Thiolases

G. Mitchell, T. Fukao, N. Kondo, 1997, Pediatric Research.

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

Yasuyuki Suzuki, N. Kondo, J. Hopwood, 1993, Human Genetics.

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

W. Sly, S. Kojima, N. Kondo, 1998, Bone Marrow Transplantation.

Metabolism of Cultured Skin with Different Disease Sphingomyelin in Fibroblasts from Patients Types of Niernann-Pick

M. Nakashima, T. Kudoh, K. Sukegawa, 2006 .

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

S. Fukuda, S. Tomatsu, K. Sukegawa, 1992, The Journal of clinical investigation.

Atypical Hurler syndrome without alpha-L-iduronidase deficiency.

T. Orii, K. Sukegawa, S. Tsugawa, 1976, The Tohoku journal of experimental medicine.

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

S. Tomatsu, M. Masuno, T. Orii, 2004, Human Genetics.

Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick disease

T. Kudoh, T. Orii, T. Nakao, 1979, Human Genetics.

Restriction Fragment Length Polymorphism Analysis in Healthy Japanese Individuals and Japanese Families with Gaucher Disease

M. Masuno, T. Orii, T. Taga, 1989, Acta paediatrica Japonica : Overseas edition.

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

T. Fukao, N. Kondo, S. Fukuda, 1998, Clinical genetics.

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.

T. Orii, S. Sato, Ryoichi Miura, 1972, The Tohoku journal of experimental medicine.

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1995, Human Genetics.

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

I. Kaitila, N. Kondo, Z. Kato, 2003, Human Genetics.

New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome

Y. Tsuji, T. Kondoh, M. Ochi, 1998, Journal of Human Genetics.

Four sanfilippo C patients in a family pedigree

T. Orii, K. Sukegawa, T. Taga, 1981, Journal of Inherited Metabolic Disease.

Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

D. Cole, S. Fukuda, S. Tomatsu, 1996, American journal of medical genetics.

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n‐acetylgalactosamine‐6‐sulfate sulfatase gene in a classical Morquio disease

Y. Kuroki, N. Shimozawa, Yasuyuki Suzuki, 1996, Human mutation.

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

T. Yasunaga, N. Kondo, Z. Kato, 1997, Human Genetics.

Methylation patterns of the human β-glucuronidase gene locus: Boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides

W. Sly, G. Shah, J. Grubb, 2002 .

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

T. Fukao, N. Kondo, S. Fukuda, 1998, Journal of Inherited Metabolic Disease.

Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase

R. Carrozzo, E. Christensen, K. Orii, 2007, Journal of Inherited Metabolic Disease.

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

T. Fukao, N. Kondo, P. Tortora, 2000, Human molecular genetics.

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

J. Hopwood, Z. Kato, S. Fukuda, 1998, Human mutation.

Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease

N. Kondo, J. Hopwood, S. Fukuda, 1997, Japanese Journal of Human Genetics.

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

S. Fukuda, S. Tomatsu, K. Isogai, 1995, American journal of human genetics.

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.

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

K. Titani, T. Fukao, Y. Hayashi, 1991, Biochemical and biophysical research communications.

N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.

T. Hashimoto, T. Orii, K. Sukegawa, 1991, Journal of biochemistry.

Optimization of electroporation for transfection of human fibroblast cell lines with origin-defective SV40 DNA: development of human transformed fibroblast cell lines with mucopolysaccharidoses (I-VII)

S. Tomatsu, T. Orii, H. Okamoto, 1992, Cell structure and function.

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.

N. Kondo, C. Bordignon, P. Tortora, 2001, Human gene therapy.

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

H. Nishio, M. Matsuo, N. Shimozawa, 1997, Human mutation.

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate‐2‐sulfatase gene in Japanese patients

T. Fukao, S. Fukuda, S. Tomatsu, 1995, Human mutation.

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

K. Tamai, T. Sasaki, S. Fukuda, 1992, Biochemical and biophysical research communications.

Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family

M. Osame, S. Gasa, M. Kuriyama, 1997, Journal of the Neurological Sciences.

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

W. Sly, S. Fukuda, S. Tomatsu, 1994, The Journal of biological chemistry.

Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic Resonance Spectroscopy before and after Bone Marrow Transplantation

H. Hoshi, N. Kondo, S. Kato, 2001, Pediatric Research.

Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses.

T. Orii, K. Huang, K. Sukegawa, 1985, Clinica chimica acta; international journal of clinical chemistry.

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection

S. Tomatsu, T. Orii, R. Minami, 1991, Clinical genetics.

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

W. Sly, R. Froissart, P. Natale, 2006, European Journal of Human Genetics.

Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.

N. Tachi, T. Orii, T. Nakao, 1983, Clinica chimica acta; international journal of clinical chemistry.

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1995, Human Genetics.

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.

Residual activity in fibroblasts from two brothers with the late-onset form ofN-acetylgalactosamine-6-sulphate sulphatase deficiency

T. Orii, K. Sukegawa, 1982, 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.

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

W. Sly, J. Grubb, K. Orii, 2002, Proceedings of the National Academy of Sciences of the United States of America.

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

N. Copeland, D. Gilbert, N. Jenkins, 2000, Biochimica et biophysica acta.

Hyperglycopeptiduria in genetic mucolipidoses.

Chiba, T. Orii, T. Nakao, 1974, The Tohoku journal of experimental medicine.

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.

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

W. Sly, S. Fukuda, S. Tomatsu, 1995, Human molecular genetics.

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

N. Shimozawa, Yasuyuki Suzuki, S. Fukuda, 1995 .

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1995, Human mutation.

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.

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

S. Fukuda, S. Tomatsu, M. Masuno, 1993, Genomics.

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

T. Sasaki, S. Fukuda, S. Tomatsu, 1990, Gene.

Glycosaminoglycan excretion in random samples of urine.

T. Orii, K. Huang, K. Sukegawa, 1985, Clinica chimica acta; international journal of clinical chemistry.

[Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type].

Y. Date, S. Matsukura, T. Ohi, 1998, No to shinkei = Brain and nerve.

XhoI and SphI RFLPs in the GALNS gene.

S. Fukuda, S. Tomatsu, T. Orii, 1994, Human molecular genetics.

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

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1995, Human Genetics.

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1996, Human mutation.

Polymorphism in the GALNS gene.

S. Fukuda, S. Tomatsu, T. Orii, 1994, Human molecular genetics.

Fifteen polymorphisms in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

N. Shimozawa, Yasuyuki Suzuki, Z. Kato, 1998, Human mutation.

[Mucopolysaccharidosis type II (Hunter syndrome)].

N. Kondo, S. Tomatsu, T. Orii, 1998, Ryoikibetsu shokogun shirizu.

Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case

M. Uchino, E. Uyama, H. Sakuraba, 1998, Journal of the Neurological Sciences.

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy

M. Nakagawa, S. Yamaguchi, S. Tomatsu, 1990, Japanese Journal of Human Genetics.

Molecular analysis of mucopolysaccharidosis type VII

T. Sasaki, S. Fukuda, S. Yamaguchi, 1991, Journal of Inherited Metabolic Disease.

Microsatellite instability in B‐cell lymphoma originating from Bloom syndrome

H. Kaneko, T. Fukao, K. Kasahara, 1996, International journal of cancer.

Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.

W. Sly, J. Grubb, K. Orii, 2003, Human molecular genetics.

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

W. Sly, N. Shimozawa, Yasuyuki Suzuki, 1997, Human mutation.

Pattern of β-Galactosidase Deficiency in GM1-Gangliosidosis Type 1 and Type 2

T. Orii, T. Nakao, K. Sukegawa, 1973 .

Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb

N. Kondo, Yukitoshi Takahashi, T. Orii, 2001, European Journal of Pediatrics.

Metabolism of sphingomyelin in cultured skin fibroblasts from patients with different types of Niemann-Pick disease.

M. Nakashima, T. Kudoh, T. Orii, 1986, The Tohoku journal of experimental medicine.

Purification and Partial Characterization of α-N-Acetylglucosaminidase from Human Liver

T. Sasaki, S. Fukuda, S. Tomatsu, 1991 .

Glycosaminoglycans in neonatal urine

N. Kondo, S. Tomatsu, T. Orii, 2000, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N‐acetylgalactosamine‐6‐sulfate sulfatase gene

S. Fukuda, S. Tomatsu, T. Orii, 1996, Human mutation.

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

K. Sukegawa, J. Wraith, A. Yamagishi, 1995, Human molecular genetics.