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Dystroglycanopathies affect muscle, eye and braindevelopment• Core features:• Congenital muscular dystrophy• Brain malformations: hydrocephalus,gyral defects• Ocular malformations in the retina,lens and corneaNormalWWS• Dystroglycan is a widelyexpressed transmembraneglycoprotein• -dystroglycan (-DG) interactswith extracellular proteins likelaminin via its glycosylatedmoieties(Barresi and Campbell, 2006)
Dystroglycanopathies are extremely genetically andclinically heterogeneous• Mutations in 10 genes cause dystroglycanopathiesand all affect -DGglycosylation• Some genes are glycosyltransferases,others are suspected to have a role inglycosylation• -DG glycosylation is essential for itfunction, e.g. laminin binding• Mutations in these genes explain only aportion of the cases• Mutations in the same gene cause a spectrum of phenotypes affectingthe brain-eye-muscle or only the muscle
Page 1: Exome sequencing and functional val
Page 5 and 6: Homozygosity mapping provides linka
Page 7 and 8: Homozygosity mapping in a dystrogly
Page 9 and 10: CONFIGURE SU PLEGADOR FL SERIES EN
Page 11 and 12: gtdc2 loss of function severely aff
Page 13 and 14: Human GTDC2 mRNA rescues the morpha
Page 15 and 16: B3GALNT2 is another new dystroglyca
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21 and 22: gtdc2 mRNA is highly expressed in t
Page 23 and 24: gtdc2 loss of function disrupts org
Page 25 and 26: Post-doctoral positions availableMa
Page 27 and 28: How do you approach a heterogeneous

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