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Type: Journal article
Title: Lysosomal storage disease : revealing lysosomal function and physiology
Author: Parkinson-Lawrence, E.
Shandala, T.
Prodoehl, M.
Plew, R.
Borlace, G.
Brooks, D.
Citation: Physiology, 2010; 25(2):102-115
Publisher: American Physiological Society
Issue Date: 2010
ISSN: 1548-9213
Statement of
Emma J. Parkinson-Lawrence, Tetyana Shandala, Mark Prodoehl, Revecca Plew, Glenn N. Borlace, and Doug A. Brooks
Abstract: The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept. Here, we review some of the history and pathophysiology of lysosomal storage disorders to show how they have impacted on our knowledge of lysosomal biology. Although a significant amount of information has been accrued on the molecular genetics and biochemistry of lysosomal storage disorders, we still do not fully understand the mechanistic link between the storage material and disease pathogenesis. However, the accumulation of undegraded substrate(s) can disrupt other lysosomal degradation processes, vesicular traffic, and lysosomal biogenesis to evoke the diverse pathophysiology that is evident in this complex set of disorders.
Keywords: Lysosomes; Humans; Lysosomal Storage Diseases
Rights: ©2010 Int. Union Physiol. Sci./Am. Physiol. Soc.
RMID: 0020097520
DOI: 10.1152/physiol.00041.2009
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Appears in Collections:Molecular and Biomedical Science publications

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