Biochemical disorders in lysosomal storage diseases consist of the interruption of metabolic pathways involved in the recycling of the degradation products of one or several types of macromolecules. The progressive accumulation of these primary storage products is the direct consequence of the genetic defect and represents the initial pathogenic event. Downstream consequences for the affected cells include the accumulation of secondary storage products and the formation of histological storage lesions, which appear as intracellular vacuoles that represent the pathological hallmark of lysosomal storage diseases. Relationships between storage products and storage lesions are not simple and are still largely not understood. Primary storage products induce malfunction of the organelles where they accumulate, these being primarily, but not only, lysosomes. Consequences for cell metabolism and intracellular trafficking combine the effects of primary storage product toxicity and the compensatory mechanisms activated to protect the cell. Induced disorders extend far beyond the primarily interrupted metabolic pathway.
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December 2010
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Conference Article|
November 24 2010
Storage problems in lysosomal diseases
Jean Michel Heard;
Jean Michel Heard
1
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
1To whom correspondence should be addressed (email jmheard@pasteur.fr).
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Julie Bruyère;
Julie Bruyère
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
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Elise Roy;
Elise Roy
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
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Stéphanie Bigou;
Stéphanie Bigou
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
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Jérôme Ausseil;
Jérôme Ausseil
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
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Sandrine Vitry
Sandrine Vitry
1Retrovirus and Genetic Transfer Unit, Department of Neuroscience, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France, and INSERM U622, Institut Pasteur, Paris, France
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Publisher: Portland Press Ltd
Received:
April 26 2010
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2010 Biochemical Society
2010
Biochem Soc Trans (2010) 38 (6): 1442–1447.
Article history
Received:
April 26 2010
Citation
Jean Michel Heard, Julie Bruyère, Elise Roy, Stéphanie Bigou, Jérôme Ausseil, Sandrine Vitry; Storage problems in lysosomal diseases. Biochem Soc Trans 1 December 2010; 38 (6): 1442–1447. doi: https://doi.org/10.1042/BST0381442
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