Matches in SemOpenAlex for { <https://semopenalex.org/work/W2569884176> ?p ?o ?g. }
- W2569884176 endingPage "e0169309" @default.
- W2569884176 startingPage "e0169309" @default.
- W2569884176 abstract "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.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.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." @default.
- W2569884176 created "2017-01-13" @default.
- W2569884176 creator A5011594339 @default.
- W2569884176 creator A5021148250 @default.
- W2569884176 creator A5031658824 @default.
- W2569884176 creator A5032199168 @default.
- W2569884176 creator A5034755325 @default.
- W2569884176 creator A5041637399 @default.
- W2569884176 creator A5052355446 @default.
- W2569884176 creator A5059646281 @default.
- W2569884176 creator A5075353367 @default.
- W2569884176 creator A5078133264 @default.
- W2569884176 creator A5079499378 @default.
- W2569884176 creator A5082615290 @default.
- W2569884176 creator A5091296158 @default.
- W2569884176 date "2017-01-04" @default.
- W2569884176 modified "2023-09-26" @default.
- W2569884176 title "GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies" @default.
- W2569884176 cites W1537636371 @default.
- W2569884176 cites W1968842554 @default.
- W2569884176 cites W1973528459 @default.
- W2569884176 cites W1980714413 @default.
- W2569884176 cites W1994020466 @default.
- W2569884176 cites W1999909698 @default.
- W2569884176 cites W2002311959 @default.
- W2569884176 cites W2007053066 @default.
- W2569884176 cites W2025534554 @default.
- W2569884176 cites W2029425513 @default.
- W2569884176 cites W2031241813 @default.
- W2569884176 cites W2048785702 @default.
- W2569884176 cites W2053793874 @default.
- W2569884176 cites W2059054872 @default.
- W2569884176 cites W2059432078 @default.
- W2569884176 cites W2059548495 @default.
- W2569884176 cites W2065355192 @default.
- W2569884176 cites W2081027701 @default.
- W2569884176 cites W2096915343 @default.
- W2569884176 cites W2112682006 @default.
- W2569884176 cites W2140959205 @default.
- W2569884176 cites W2142321455 @default.
- W2569884176 cites W2155503300 @default.
- W2569884176 cites W2161633633 @default.
- W2569884176 cites W2163527490 @default.
- W2569884176 doi "https://doi.org/10.1371/journal.pone.0169309" @default.
- W2569884176 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5215700" @default.
- W2569884176 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28052128" @default.
- W2569884176 hasPublicationYear "2017" @default.
- W2569884176 type Work @default.
- W2569884176 sameAs 2569884176 @default.
- W2569884176 citedByCount "16" @default.
- W2569884176 countsByYear W25698841762017 @default.
- W2569884176 countsByYear W25698841762018 @default.
- W2569884176 countsByYear W25698841762019 @default.
- W2569884176 countsByYear W25698841762020 @default.
- W2569884176 countsByYear W25698841762021 @default.
- W2569884176 countsByYear W25698841762022 @default.
- W2569884176 crossrefType "journal-article" @default.
- W2569884176 hasAuthorship W2569884176A5011594339 @default.
- W2569884176 hasAuthorship W2569884176A5021148250 @default.
- W2569884176 hasAuthorship W2569884176A5031658824 @default.
- W2569884176 hasAuthorship W2569884176A5032199168 @default.
- W2569884176 hasAuthorship W2569884176A5034755325 @default.
- W2569884176 hasAuthorship W2569884176A5041637399 @default.
- W2569884176 hasAuthorship W2569884176A5052355446 @default.
- W2569884176 hasAuthorship W2569884176A5059646281 @default.
- W2569884176 hasAuthorship W2569884176A5075353367 @default.
- W2569884176 hasAuthorship W2569884176A5078133264 @default.
- W2569884176 hasAuthorship W2569884176A5079499378 @default.
- W2569884176 hasAuthorship W2569884176A5082615290 @default.
- W2569884176 hasAuthorship W2569884176A5091296158 @default.
- W2569884176 hasBestOaLocation W25698841761 @default.
- W2569884176 hasConcept C104317684 @default.
- W2569884176 hasConcept C12387725 @default.
- W2569884176 hasConcept C127716648 @default.
- W2569884176 hasConcept C135763542 @default.
- W2569884176 hasConcept C139275648 @default.
- W2569884176 hasConcept C153209595 @default.
- W2569884176 hasConcept C16671776 @default.
- W2569884176 hasConcept C169760540 @default.
- W2569884176 hasConcept C2780148635 @default.
- W2569884176 hasConcept C2780225610 @default.
- W2569884176 hasConcept C2780906641 @default.
- W2569884176 hasConcept C54355233 @default.
- W2569884176 hasConcept C86803240 @default.
- W2569884176 hasConceptScore W2569884176C104317684 @default.
- W2569884176 hasConceptScore W2569884176C12387725 @default.
- W2569884176 hasConceptScore W2569884176C127716648 @default.
- W2569884176 hasConceptScore W2569884176C135763542 @default.
- W2569884176 hasConceptScore W2569884176C139275648 @default.
- W2569884176 hasConceptScore W2569884176C153209595 @default.
- W2569884176 hasConceptScore W2569884176C16671776 @default.
- W2569884176 hasConceptScore W2569884176C169760540 @default.
- W2569884176 hasConceptScore W2569884176C2780148635 @default.
- W2569884176 hasConceptScore W2569884176C2780225610 @default.
- W2569884176 hasConceptScore W2569884176C2780906641 @default.
- W2569884176 hasConceptScore W2569884176C54355233 @default.
- W2569884176 hasConceptScore W2569884176C86803240 @default.
- W2569884176 hasIssue "1" @default.