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dc.contributor.authorCachon-Gonzalez, Begona
dc.contributor.authorZaccariotto, Eva
dc.contributor.authorCox, Timothy
dc.date.accessioned2018-09-20T12:55:19Z
dc.date.available2018-09-20T12:55:19Z
dc.date.issued2018-04-30
dc.identifier.issn1566-5232
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/280591
dc.description.abstractTay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of lysosomal storage diseases. Inherited as a classical autosomal recessive disorder, this global disease of the nervous system induces developmental arrest with regression of attained milestones; neurodegeneration progresses rapidly to cause premature death in young children. There is no effective treatment beyond palliative care, and while the genetic basis of GM2 gangliosidosis is well established, the molecular and cellular events, from diseasecausing mutations and glycosphingolipid storage to disease manifestations, remain to be fully delineated. Several therapeutic approaches have been attempted in patients, including enzymatic augmentation, bone marrow transplantation, enzyme enhancement, and substrate reduction therapy. Hitherto, none of these stratagems has materially altered the course of the disease. Authentic animal models of GM2 gangliodidosis have facilitated in-depth evaluation of innovative applications such as gene transfer, which in contrast to other interventions, shows great promise. This review outlines current knowledge pertaining the pathobiology as well as potential innovative treatments for the GM2 gangliosidoses.
dc.description.sponsorshipMRC programme award The National Institute of Health Research University of Cambridge Biomedical Research Centre
dc.publisherBentham Science Publishers
dc.titleGenetics and therapies for GM2 gangliosidosis
dc.typeArticle
prism.endingPage89
prism.issueIdentifier2
prism.publicationDate2018
prism.publicationNameCurrent Gene Therapy: the international journal for in-depth reviews on gene therapy
prism.startingPage68
prism.volume18
dc.identifier.doi10.17863/CAM.27958
dcterms.dateAccepted2018-01-27
rioxxterms.versionofrecord10.2174/1566523218666180404162622
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-04-30
dc.contributor.orcidCachon-Gonzalez, Begona [0000-0002-1884-2527]
dc.contributor.orcidCox, Timothy [0000-0002-4951-9941]
dc.identifier.eissn1875-5631
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Institute for Health Research (NIHR) (unknown)
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (RG50826 METABOLISM)
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (146281)
pubs.funder-project-idMedical Research Council (MR/K025570/1)
cam.issuedOnline2018-05-07
rioxxterms.freetoread.startdate2019-04-01


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