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Protective Protein as an Endogenous Endothelin Degradation Enzyme in Human Tissues (∗)

The Journal of biological chemistry, 1995-01, Vol.270 (2), p.515-518

1995

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Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis

Journal of human genetics, 2000-01, Vol.45 (4), p.200-206

2000

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

Journal of the neurological sciences, 1998-02, Vol.155 (1), p.86-91

1998

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Klotho gene polymorphisms and their association with sickle cell disease phenotypes

Revista brasileira de hematologia e hemoterapia, 2015-07, Vol.37 (4), p.275-276

2015

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GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient

Neurology, 1999-01, Vol.52 (2), p.372-372

1999

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Expression of lysosomal protective protein/cathepsin A in a stably transformed human neuroblastoma cell line during bi-directional differentiation into neuronal and Schwannian cells

Neurochemistry international, 2004-05, Vol.44 (6), p.447-457

2004

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Generation of mouse-human hybridomas secreting antibodies against peanut allergen Ara h1

Cytotechnology (Dordrecht), 2004-09, Vol.46 (1), p.19-23

2004

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Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

Jinrui idengaku zasshi. Japanese journal of human genetics, 1988-09, Vol.33 (3), p.333-338

1988

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Klotho Polymorphisms and Priapism In Sickle Cell Disease

Blood, 2010-11, Vol.116 (21), p.1653-1653

2010

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Endothelin-1 in the brain of patients with galactosialidosis: Its abnormal increase and distribution pattern

Annals of neurology, 2000-01, Vol.47 (1), p.122-126

2000

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Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency

Developmental neuroscience, 1991-01, Vol.13 (4-5), p.299-303

1991

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Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic cases

American journal of human genetics, 1991-08, Vol.49 (2), p.435-442

1991

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Multifunctional protective protein and its genetic deficiency 'galactosialidosis'

Seikagaku. The Journal of Japanese Biochemical Society, 1993-07, Vol.65 (7), p.561

1993

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Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

American journal of human genetics, 1990-11, Vol.47 (5), p.784-789

1990

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Protective protein gene mutations in galactosialidosis

The Journal of clinical investigation, 1993-06, Vol.91 (6), p.2393-2398

1993

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Human beta-galactosidase gene mutations in morquio B disease

American journal of human genetics, 1991-11, Vol.49 (5), p.1091-1093

1991

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Stabilizing Effect of Lysosomal β-Galactosidase on the Catalytic Activity of Protective Protein/Cathepsin A Secreted by Human Platelets

Biochemical and biophysical research communications, 1998-12, Vol.253 (2), p.228-234

1998

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Generation and characterization of transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease

FEBS letters, 1997-11, Vol.417 (1), p.89-91

1997

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Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes

Biochemical journal, 1999-06, Vol.340 ( Pt 2) (2), p.467-474

1999

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Protective Protein/Cathepsin A Loss in Cultured Cells Derived from an Early-Infantile Form of Galactosialidosis Patients Homozygous for the A1184-G Transition (Y395C Mutation)

Biochemical and biophysical research communications, 1998-06, Vol.247 (1), p.12-17

1998

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DNA deletions and recombinations in the gene locus of X‐linked muscular dystrophies

Journal of inherited metabolic disease, 1988-09, Vol.11 (3), p.324-328

1988

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Immunohistochemical characterization of transgenic mice highly expressing human lysosomal α-galactosidase

Biochimica et biophysica acta, 1998-04, Vol.1406 (3), p.260-266

1998

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Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis

Brain & development (Tokyo. 1979), 1997-03, Vol.19 (2), p.111-116

1997

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A Human Protective Protein Gene Partially Overlaps the Gene Encoding Phospholipid Transfer Protein on the Complementary Strand of DNA

Biochemical and biophysical research communications, 1996-03, Vol.220 (3), p.802-806

1996

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Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A

Clinical genetics, 1991-03, Vol.39 (3), p.233-237

1991

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Protective Protein as an Endogenous Endothelin Degradation Enzyme in Human Tissues (∗)

Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis

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

Klotho gene polymorphisms and their association with sickle cell disease phenotypes

GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient

Expression of lysosomal protective protein/cathepsin A in a stably transformed human neuroblastoma cell line during bi-directional differentiation into neuronal and Schwannian cells

Generation of mouse-human hybridomas secreting antibodies against peanut allergen Ara h1

Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

Klotho Polymorphisms and Priapism In Sickle Cell Disease

Endothelin-1 in the brain of patients with galactosialidosis: Its abnormal increase and distribution pattern

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency

Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic cases

Multifunctional protective protein and its genetic deficiency 'galactosialidosis'

Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

Protective protein gene mutations in galactosialidosis

Human beta-galactosidase gene mutations in morquio B disease

Stabilizing Effect of Lysosomal β-Galactosidase on the Catalytic Activity of Protective Protein/Cathepsin A Secreted by Human Platelets

Generation and characterization of transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease

Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes

Protective Protein/Cathepsin A Loss in Cultured Cells Derived from an Early-Infantile Form of Galactosialidosis Patients Homozygous for the A1184-G Transition (Y395C Mutation)

DNA deletions and recombinations in the gene locus of X‐linked muscular dystrophies

Immunohistochemical characterization of transgenic mice highly expressing human lysosomal α-galactosidase

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis

A Human Protective Protein Gene Partially Overlaps the Gene Encoding Phospholipid Transfer Protein on the Complementary Strand of DNA

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A

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