A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation

Cited 41 time in scopus
Metadata Downloads

Full metadata record

DC FieldValueLanguage
dc.contributor.authorMi Young Son-
dc.contributor.authorJae Eun Kwak-
dc.contributor.authorBinna Seol-
dc.contributor.authorDa Yong Lee-
dc.contributor.authorHyejin Jeon-
dc.contributor.authorYee Sook Cho-
dc.date.accessioned2017-04-19T10:10:33Z-
dc.date.available2017-04-19T10:10:33Z-
dc.date.issued2015-
dc.identifier.issn0022-3417-
dc.identifier.uri10.1002/path.4551ko
dc.identifier.urihttps://oak.kribb.re.kr/handle/201005/12799-
dc.description.abstractGM1 gangliosidosis (GM1) is an inherited neurodegenerative disorder caused by mutations in the lysosomal β-galactosidase (β-gal) gene. Insufficient β-gal activity leads to abnormal accumulation of GM1 gangliosides in tissues, particularly in the central nervous system, resulting in progressive neurodegeneration. Here, we report an in vitro human GM1 model, based on induced pluripotent stem cell (iPSC) technology. Neural progenitor cells differentiated from GM1 patient-derived iPSCs (GM1-NPCs) recapitulated the biochemical and molecular phenotypes of GM1, including defective β-gal activity and increased lysosomes. Importantly, the characterization of GM1-NPCs established that GM1 is significantly associated with the activation of inflammasomes, which play a critical role in the pathogenesis of various neurodegenerative diseases. Specific inflammasome inhibitors potently alleviated the disease-related phenotypes of GM1-NPCs in vitro and in vivo. Our data demonstrate that GM1-NPCs are a valuable in vitro human GM1 model and suggest that inflammasome activation is a novel target pathway for GM1 drug development.-
dc.publisherWiley-
dc.titleA novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation-
dc.title.alternativeA novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation-
dc.typeArticle-
dc.citation.titleJournal of Pathology-
dc.citation.number1-
dc.citation.endPage110-
dc.citation.startPage98-
dc.citation.volume237-
dc.contributor.affiliatedAuthorMi Young Son-
dc.contributor.affiliatedAuthorJae Eun Kwak-
dc.contributor.affiliatedAuthorBinna Seol-
dc.contributor.affiliatedAuthorDa Yong Lee-
dc.contributor.affiliatedAuthorHyejin Jeon-
dc.contributor.affiliatedAuthorYee Sook Cho-
dc.contributor.alternativeName손미영-
dc.contributor.alternativeName곽재은-
dc.contributor.alternativeName설빛나-
dc.contributor.alternativeName이다용-
dc.contributor.alternativeName전혜진-
dc.contributor.alternativeName조이숙-
dc.identifier.bibliographicCitationJournal of Pathology, vol. 237, no. 1, pp. 98-110-
dc.identifier.doi10.1002/path.4551-
dc.subject.keywordGM1 gangliosidosis-
dc.subject.keywordhuman disease model-
dc.subject.keywordinduced pluripotent stem cells-
dc.subject.keywordinflammasome-
dc.subject.keywordneural progenitor cells-
dc.subject.localGM1 gangliosidosis-
dc.subject.localhuman disease model-
dc.subject.localHuman disease model-
dc.subject.localinduced pluripotent stem cells-
dc.subject.localinflammasome-
dc.subject.localInflammasome-
dc.subject.localneural progenitor cells-
dc.description.journalClassY-
Appears in Collections:
Division of Research on National Challenges > Stem Cell Convergenece Research Center > 1. Journal Articles
Division of Biomedical Research > Immunotherapy Research Center > 1. Journal Articles
Division of Biomedical Research > Rare Disease Research Center > 1. Journal Articles
Files in This Item:
  • There are no files associated with this item.


Items in OpenAccess@KRIBB are protected by copyright, with all rights reserved, unless otherwise indicated.