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Induced pluripotent stem cell modeling of Gaucher's disease: what have we learned?

2017-04Journal article Open access
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dc.contributor.authorSantos Matias, Dino
dc.contributor.authorTiscornia, Gustavo
dc.date.accessioned2018-12-07T14:52:26Z
dc.date.available2018-12-07T14:52:26Z
dc.date.issued2017-04
dc.description.abstractGaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid beta-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment options are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). However, neither of these approaches is effective in treating the neurological aspect of the disease. The use of small pharmacological compounds that act as molecular chaperones is a promising approach that is still experimental. In recent years, an association between GD and Parkinson like synucleinopathies has been discovered. Since 1992, a number of mouse models of GD have been the developed and partially reproduce phenotype of the disease. More recently, the discovery of direct reprograming has allowed the derivation of induced pluripotent stem cells (iPSc) from fibroblasts obtained from GD patients. iPSc can be expanded indefinitely in vitro and differentiated to macrophages and neurons, the main relevant cell types involved in GD. In this work, we review iPSc models of GD and summarize what we have learned from this system.
dc.description.sponsorshipProgram for Regenerative Medicine PhD Fellowship; Genzyme Corporation
dc.description.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.3390/ijms18040888
dc.identifier.issn1422-0067
dc.identifier.urihttp://hdl.handle.net/10400.1/11082
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI Ag
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAcid-Beta-glucosidase
dc.subjectGlucocerebrosidase gene-mutations
dc.subjectLysosomal storage diseases
dc.subjectParkinsons-disease
dc.subjectAlpha-synuclein
dc.subjectMouse model
dc.subjectPharmacological chaperones
dc.subjectTargeted disruption
dc.subjectCalcium homeostasis
dc.subjectDown-regulation
dc.titleInduced pluripotent stem cell modeling of Gaucher's disease: what have we learned?
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.startPage888
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume18
person.familyNameSantos Matias
person.familyNameTiscornia
person.givenNameDino
person.givenNameGustavo
person.identifier.ciencia-id7818-59E3-E4EE
person.identifier.orcid0000-0002-1710-1487
person.identifier.orcid0000-0002-1841-5330
person.identifier.scopus-author-id6507863404
rcaap.rightsopenAccess
rcaap.typearticle
relation.isAuthorOfPublicationdb4eb2c1-8ece-4fee-91f1-f05e58d8df22
relation.isAuthorOfPublication8d2c4950-f020-4c0c-bbbd-52d19e1397a4
relation.isAuthorOfPublication.latestForDiscoverydb4eb2c1-8ece-4fee-91f1-f05e58d8df22

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