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Targeting pathogenic Lafora bodies in Lafora disease using an antibody-enzyme fusion

Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble polysaccharide deposits known as Lafora bodies (LBs) in the brain and other tissues. In LD mouse models, genetic reductio...

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Podrobná bibliografie
Vydáno v:Cell Metab
Hlavní autoři: Brewer, M. Kathryn, Uittenbogaard, Annette, Austin, Grant L., Segvich, Dyann M., DePaoli-Roach, Anna, Roach, Peter J., McCarthy, John J., Simmons, Zoe R., Brandon, Jason A., Zhou, Zhengqiu, Zeller, Jill, Young, Lyndsay E. A., Sun, Ramon C., Pauly, James R., Aziz, Nadine M., Hodges, Bradley L., McKnight, Tracy, Armstrong, Dustin, Gentry, Matthew S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6774808/
https://ncbi.nlm.nih.gov/pubmed/31353261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cmet.2019.07.002
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