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Article Addendum
Lysosomal storage diseases as disorders of autophagy
Carmine Settembre, Alessandro Fraldi, David C. Rubinsztein and Andrea Ballabio
Volume 4, Issue 11 January 2008
Pages: 113 - 114
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The cellular turnover of proteins and organelles requires cooperation between the autophagic and the lysosomal degradation pathways. A crucial step in this process is the fusion of the autophagosome with the lysosome. In our study we demonstrate that in Lysosomal Storage Disorders (LSDs) accumulation of undegraded substrates in lysosomes, due to deficiency of specific lysosomal enzymes, impairs the fusion between autophagosomes and lysosomes. This, in turn, leads to a progressive accumulation of poly-ubiquitinated protein aggregates and of dysfunctional mitochondria. These findings suggest that neurodegeneration in LSDs may share some mechanisms with late-onset neurodegenerative disorders in which the accumulation of protein aggregates is a prominent feature.
Authors
Carmine Settembre
Telethon Institute of Genetics and Medicine (TIGEM)
Alessandro Fraldi
Telethon Institute of Genetics and Medicine (TIGEM)
David C. Rubinsztein
Cambridge Institute for Medical Research
Andrea Ballabio
Telethon Institute of Genetics and Medicine (TIGEM)
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDF If the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.
