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EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents severe and progressive neurodegeneration and currently there is no effective treatment. Substrate reduction therapy (SRT) may be a useful option for neurological disorders...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Canals, Isaac, Benetó, Noelia, Cozar, Mónica, Vilageliu, Lluïsa, Grinberg, Daniel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4561882/
https://ncbi.nlm.nih.gov/pubmed/26347037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep13654
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