Elastogenesis in cultured dermal fibroblasts from patients with lysosomal .BETA.-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies

Author:

Tatano Yutaka12,Takeuchi Naohiro1,Kuwahara Jun1,Sakuraba Hitoshi32,Takahashi Tsutomu4,Takada Goro4,Itoh Kohji12

Affiliation:

1. Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima

2. CREST, JST

3. Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research

4. Department of Pediatrics, Akita University of Medical School

Publisher

University of Tokushima Faculty of Medicine

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference40 articles.

1. 1. Suzuki Y, Sakuraba H, Oshima A: β-Galactosidase deficiency (β-galactosidosis): GM1-gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet A, Sly WS, Valle D, eds. Metabolic basis of inherited disease, 8th ed. McGraw-Hill, New York, 2000, pp 2785-2823

2. Organization of the Gene Encoding Human Lysosomal β-Galactosidase

3. 3. Charrow J, Hvizd MG: Cardiomyopathy and skeletal myopathy in an unusual variant of GM1-gangliosidosis. J Pediatr 108: 729-732, 1986

4. 4. Haust MD: Arterial involvement in genetic diseases. Am J Cardiovasc Pathol 1: 231-285, 1987

5. 5. d’Azzo A, Andria G, Strisciuglio P, Galjaard H: Galactosialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Diseases, 8th ed. McGraw-Hill, New York, 2001, pp 3811-3826

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