Plotegher, N;
Duchen, MR;
(2017)
Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders.
Trends in Molecular Medicine
, 23
(2)
pp. 116-134.
10.1016/j.molmed.2016.12.003.
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Abstract
Lysosomal storage disorders (LSDs) are rare inherited debilitating and often fatal disorders. Caused by mutations affecting lysosomal proteins, LSDs are characterized by the accumulation of undegraded material in lysosomes and by lysosomal dysfunction. Although LSDs are multisystemic diseases, the majority display neurologic symptoms and neurodegeneration. Only recently has a role emerged for mitochondrial dysfunction in the pathophysiology of LSDs, suggesting an impact of lysosomal dysfunction on mitochondria. Moreover, mitochondrial damage may also cause lysosomal dysfunction, further supporting the activity of common signaling pathways and crosstalk between the two organelles. In this review we explore the mechanisms linking lysosomal and mitochondrial dysfunction to assess whether specific mitochondrial pathways represent a new therapeutic frontier in the management of LSDs.
| Type: | Article |
|---|---|
| Title: | Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.molmed.2016.12.003 |
| Publisher version: | http://dx.doi.org/10.1016/j.molmed.2016.12.003 |
| Language: | English |
| Additional information: | © 2016. This manuscript version is published under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International licence (CC BY-NC-ND 4.0). This licence allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licences are available at http://creativecommons.org/licenses/by/4.0. Access may be initially restricted by the publisher. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1537684 |
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