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dc.contributor.authorHaugarvoll, Kristofferen_US
dc.contributor.authorJohansson, Stefanen_US
dc.contributor.authorRodriguez, Carlos E.en_US
dc.contributor.authorBoman, Helgeen_US
dc.contributor.authorHaukanes, Bjørn Ivaren_US
dc.contributor.authorBruland, Oveen_US
dc.contributor.authorRoque, Franciscoen_US
dc.contributor.authorJonassen, Ingeen_US
dc.contributor.authorBlomqvist, Mariaen_US
dc.contributor.authorTelstad, Wencheen_US
dc.contributor.authorMånsson, Jan-Ericen_US
dc.contributor.authorKnappskog, Peren_US
dc.contributor.authorBindoff, Laurenceen_US
dc.date.accessioned2018-03-20T13:55:27Z
dc.date.available2018-03-20T13:55:27Z
dc.date.issued2017-01-04
dc.PublishedHaugarvoll K, Johansson S, Rodriguez, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist, Telstad W, Månsson J, Knappskog PM, Bindoff L. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLoS ONE. 2017;12(1):e0169309eng
dc.identifier.issn1932-6203
dc.identifier.urihttps://hdl.handle.net/1956/17534
dc.description.abstractBackground: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation. Methods and Results: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c.1528_1529del [p.Met510Valfs*17]. Furthermore, we report the biochemical characterization of GBA2 in these patients. Our studies show that a reduced activity of GBA2 is sufficient to elevate the levels of glucosylceramide to similar levels as seen in Gaucher disease. Furthermore, leucocytes seem to be the proper enzyme source for in vitro analysis of GBA2 activity. Conclusions: We report GBA2 mutations causing a Marinesco-Sjögren-like syndrome in two Norwegian families. One of the families was originally diagnosed with Marinesco-Sjögren syndrome based on an autosomal recessive cerebellar ataxia with cataracts and mental retardation. Our findings highlight the phenotypic variability associated with GBA2 mutations, and suggest that patients with Marinesco-Sjögren-like syndromes should be tested for mutations in this gene.en_US
dc.language.isoengeng
dc.publisherPLOSeng
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/4.0eng
dc.titleGBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studiesen_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2018-01-10T08:25:50Z
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2017 The Author(s)
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0169309
dc.identifier.cristin1469427
dc.source.journalPLoS ONE
dc.relation.projectNorges forskningsråd: 240756


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