Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050459733> ?p ?o ?g. }
Showing items 1 to 58 of
58
with 100 items per page.
- W2050459733 abstract "Allelic mutations in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of a-Dystroglycan, commonly referred to as dystroglycanopathies. Defective glycosylation affecting Dystroglycan-ligand interactions is considered to underlie the disease pathogenesis. We have modelled dystroglycanopathies in zebrafish using a novel loss-of-function dystroglycan allele and by inhibition of Fukutin family protein activities. We show that muscle pathology in embryos lacking Fukutin or FKRP is different from loss of Dystroglycan. In addition to hypoglycosylated a-Dystroglycan, loss of Fukutin or FKRP causes notochord defects and perturbs expression of laminins before muscle degeneration. These are a consequence of ER stress and activation of the unfolded protein response (UPR), preceding loss of Dystroglycan-ligand interactions. Together, our results suggest that Fukutin family proteins may play important roles in protein secretion and that the UPR may contribute to the phenotypic spectrum of some dystroglycanopathies in humans." @default.
- W2050459733 created "2016-06-24" @default.
- W2050459733 creator A5000914851 @default.
- W2050459733 creator A5011268516 @default.
- W2050459733 creator A5021999827 @default.
- W2050459733 creator A5033520179 @default.
- W2050459733 creator A5040011139 @default.
- W2050459733 creator A5052894728 @default.
- W2050459733 creator A5061508902 @default.
- W2050459733 creator A5064919650 @default.
- W2050459733 date "2010-03-01" @default.
- W2050459733 modified "2023-09-26" @default.
- W2050459733 title "P32 Investigating novel mutant mouse models of motor neuron disease" @default.
- W2050459733 doi "https://doi.org/10.1016/s0960-8966(10)70047-x" @default.
- W2050459733 hasPublicationYear "2010" @default.
- W2050459733 type Work @default.
- W2050459733 sameAs 2050459733 @default.
- W2050459733 citedByCount "0" @default.
- W2050459733 crossrefType "journal-article" @default.
- W2050459733 hasAuthorship W2050459733A5000914851 @default.
- W2050459733 hasAuthorship W2050459733A5011268516 @default.
- W2050459733 hasAuthorship W2050459733A5021999827 @default.
- W2050459733 hasAuthorship W2050459733A5033520179 @default.
- W2050459733 hasAuthorship W2050459733A5040011139 @default.
- W2050459733 hasAuthorship W2050459733A5052894728 @default.
- W2050459733 hasAuthorship W2050459733A5061508902 @default.
- W2050459733 hasAuthorship W2050459733A5064919650 @default.
- W2050459733 hasConcept C104317684 @default.
- W2050459733 hasConcept C127716648 @default.
- W2050459733 hasConcept C143065580 @default.
- W2050459733 hasConcept C170493617 @default.
- W2050459733 hasConcept C189165786 @default.
- W2050459733 hasConcept C24530287 @default.
- W2050459733 hasConcept C2777313579 @default.
- W2050459733 hasConcept C2778384963 @default.
- W2050459733 hasConcept C2779814568 @default.
- W2050459733 hasConcept C54355233 @default.
- W2050459733 hasConcept C86803240 @default.
- W2050459733 hasConcept C95444343 @default.
- W2050459733 hasConceptScore W2050459733C104317684 @default.
- W2050459733 hasConceptScore W2050459733C127716648 @default.
- W2050459733 hasConceptScore W2050459733C143065580 @default.
- W2050459733 hasConceptScore W2050459733C170493617 @default.
- W2050459733 hasConceptScore W2050459733C189165786 @default.
- W2050459733 hasConceptScore W2050459733C24530287 @default.
- W2050459733 hasConceptScore W2050459733C2777313579 @default.
- W2050459733 hasConceptScore W2050459733C2778384963 @default.
- W2050459733 hasConceptScore W2050459733C2779814568 @default.
- W2050459733 hasConceptScore W2050459733C54355233 @default.
- W2050459733 hasConceptScore W2050459733C86803240 @default.
- W2050459733 hasConceptScore W2050459733C95444343 @default.
- W2050459733 hasLocation W20504597331 @default.
- W2050459733 hasOpenAccess W2050459733 @default.
- W2050459733 hasPrimaryLocation W20504597331 @default.
- W2050459733 isParatext "false" @default.
- W2050459733 isRetracted "false" @default.
- W2050459733 magId "2050459733" @default.
- W2050459733 workType "article" @default.