期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 38, 期 -, 页码 1484-1488出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST0381484
关键词
Batten disease; chaperone therapy; enzyme replacement therapy; gene therapy; neuronal ceroid lipofuscinosis; stem cell therapy
资金
- National Institutes of Health [NS4029, NS41930, NS043105, NSO44310]
- Wellcome Trust [GR079491MA, WT084151AIA, 023360]
- Medical Research Council [G1000709]
- European Commission [LSHM CT 2003 503051]
- Batten Disease Support and Research Association
- Batten Disease Family Association
- Medical Research Council [G1000709] Funding Source: researchfish
- MRC [G1000709] Funding Source: UKRI
The NCLs (neuronal ceroid lipofuscinoses) are the most common inherited paediatric neurodegenerative disorder Although genetically distinct NCLs can be broadly divided into two categories one in which the mutation results in a defect in a transmembrane protein and the other where the defect lies in a soluble lysosomal enzyme A number of therapeutic approaches are applicable to the soluble lysosomal forms of NCL based on the phenomenon of cross correction whereby the ubiquitously expressed mannose 6 phosphate/IGF (insulin like growth factor) II receptor provides an avenue for endocytosis trafficking and lysosomal processing of extracellularly delivered enzyme The present review discusses therapeutic utilization of cross correction by enzyme replacement therapy gene therapy and stem cell therapy for the NCLs along with an overview of the recent progress in translating these treatments into the clinic
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