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Lysosomal Proteinosis Based on Decreased Degration of a Specific Protein, Mitochondrial ATP Synthase Subunit C

Batten Disease

  • Chapter
Intracellular Protein Catabolism

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 389))

Abstract

Lysosomal storage diseases are a group of more than 35 genetically determined heterogenous metabolic disorders. Biochemically, they are characterized by deficient activity of specific lysosomal hydrolases and intralysosomal accumulation of one or more substrates in affected cells. They are often categorized according to the chemical nature of the most prominent storage compounds. They include lipid storage diseases, glycogen storage diseases, mucopolysaccharidoses, mucolipidoses and gangliosidoses. However, there are no reports of protein storage diseases (proteinoses) based on deficiency of specific lysosomal proteases. Experimentally, inhibition of lysosomal cysteine proteinases by administration of leupeptin and E-64 causes intralysosomal storage of cytoplasmic proteins in cells (1).

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Author information

Authors and Affiliations

  1. Department of Biochemistry, Juntendo University of School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113, Japan

    K. Ishidoh, D. Muno, T. Ueno & E. Kominami

  2. Montreal Neurological Institute and Hospital, McGill University, 3801 University Street, Montreal, Quebec, H3A-2B4, Canada

    L. S. Wolfe

Authors
  1. J. Ezaki
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  2. L. S. Wolfe
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  3. K. Ishidoh
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  4. D. Muno
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  5. T. Ueno
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  6. E. Kominami
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Editor information

Editors and Affiliations

  1. University of Tokyo, Tokyo, Japan

    Koichi Suzuki

  2. College of Medicine, Penn State University, Hershey, Pennsylvania, USA

    Judith S. Bond

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© 1996 Plenum Press, New York

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Ezaki, J., Wolfe, L.S., Ishidoh, K., Muno, D., Ueno, T., Kominami, E. (1996). Lysosomal Proteinosis Based on Decreased Degration of a Specific Protein, Mitochondrial ATP Synthase Subunit C. In: Suzuki, K., Bond, J.S. (eds) Intracellular Protein Catabolism. Advances in Experimental Medicine and Biology, vol 389. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0335-0_14

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  • DOI: https://doi.org/10.1007/978-1-4613-0335-0_14

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-8003-0

  • Online ISBN: 978-1-4613-0335-0

  • eBook Packages: Springer Book Archive

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