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Journal of Inherited Metabolic Disease

Erschienen in:

01.10.2011 | Review

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality

verfasst von: Kim M. Hemsley, John J. Hopwood

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2011

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Abstract

Lysosomal storage disorders are inherited metabolic diseases in which a mutation in a gene encoding a lysosomal enzyme or lysosome-related protein results in the intra-cellular accumulation of substrate and reduced cell/tissue function. Few patients with neurodegenerative lysosomal storage disorders have access to safe and effective treatments although many therapeutic strategies have been or are presently being studied in vivo thanks to the availability of a large number of animal models. This review will describe the comparative advancement of a variety of therapeutic strategies through the ‘research pipeline’. Our goal is to provide information for clinicians, researchers and patients/families alike on the leading therapeutic candidates at this point in time, and also to provide information on emerging approaches that may provide a safe and effective treatment in the future. The length of the pipeline represents the significant and sustained effort required to move a novel concept from the laboratory into the clinic.

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Titel: Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality
verfasst von: Kim M. Hemsley
John J. Hopwood
Publikationsdatum: 01.10.2011
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9341-5

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