FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3211639968> ?p ?o ?g. }

• W3211639968 abstract "The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potentially new zebrafish model (pmm2sa10150) of PMM2-CDG to uncover a protease-mediated pathogenic mechanism relevant to craniofacial and motility phenotypes in mutant embryos. Mutant embryos had reduced phosphomannomutase activity and modest decreases in N-glycan occupancy as detected by matrix-assisted laser desorption ionization mass spectrometry imaging. Cellular analyses of cartilage defects in pmm2sa10150 embryos revealed a block in chondrogenesis that was associated with defective proteolytic processing, but seemingly normal N-glycosylation, of the cell adhesion molecule N-cadherin. The activities of the proconvertases and matrix metalloproteinases responsible for N-cadherin maturation were significantly altered in pmm2sa10150 mutant embryos. Importantly, pharmacologic and genetic manipulation of proconvertase activity restored matrix metalloproteinase activity, N-cadherin processing, and cartilage pathology in pmm2sa10150 embryos. Collectively, these studies demonstrate in CDG that targeted alterations in protease activity create a pathogenic cascade that affects the maturation of cell adhesion proteins critical for tissue development." @default.
• W3211639968 created "2021-11-22" @default.
• W3211639968 creator A5014532793 @default.
• W3211639968 creator A5034038476 @default.
• W3211639968 creator A5037316485 @default.
• W3211639968 creator A5040580983 @default.
• W3211639968 creator A5047946163 @default.
• W3211639968 creator A5055538365 @default.
• W3211639968 creator A5057034573 @default.
• W3211639968 creator A5082772784 @default.
• W3211639968 creator A5085587731 @default.
• W3211639968 creator A5085758352 @default.
• W3211639968 creator A5089305746 @default.
• W3211639968 date "2021-12-22" @default.
• W3211639968 modified "2023-09-24" @default.
• W3211639968 title "Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis" @default.
• W3211639968 cites W1593067394 @default.
• W3211639968 cites W1770672301 @default.
• W3211639968 cites W1930100406 @default.
• W3211639968 cites W1962881891 @default.
• W3211639968 cites W1964005583 @default.
• W3211639968 cites W1965851817 @default.
• W3211639968 cites W1982216518 @default.
• W3211639968 cites W1985413330 @default.
• W3211639968 cites W1986028702 @default.
• W3211639968 cites W1997340451 @default.
• W3211639968 cites W1998569410 @default.
• W3211639968 cites W2000560224 @default.
• W3211639968 cites W2008669845 @default.
• W3211639968 cites W2015049954 @default.
• W3211639968 cites W2016034917 @default.
• W3211639968 cites W2021173111 @default.
• W3211639968 cites W2033294379 @default.
• W3211639968 cites W2041043596 @default.
• W3211639968 cites W2053188090 @default.
• W3211639968 cites W2057416425 @default.
• W3211639968 cites W2057557618 @default.
• W3211639968 cites W2059775810 @default.
• W3211639968 cites W2065001760 @default.
• W3211639968 cites W2071723955 @default.
• W3211639968 cites W2083571731 @default.
• W3211639968 cites W2085229908 @default.
• W3211639968 cites W2090164402 @default.
• W3211639968 cites W2091286015 @default.
• W3211639968 cites W2091760375 @default.
• W3211639968 cites W2100368894 @default.
• W3211639968 cites W2107026123 @default.
• W3211639968 cites W2107034187 @default.
• W3211639968 cites W2107303483 @default.
• W3211639968 cites W2109944965 @default.
• W3211639968 cites W2111314225 @default.
• W3211639968 cites W2115088504 @default.
• W3211639968 cites W2125349610 @default.
• W3211639968 cites W2125974759 @default.
• W3211639968 cites W2132375258 @default.
• W3211639968 cites W2134859844 @default.
• W3211639968 cites W2135896978 @default.
• W3211639968 cites W2146458937 @default.
• W3211639968 cites W2148537253 @default.
• W3211639968 cites W2162173421 @default.
• W3211639968 cites W2171521392 @default.
• W3211639968 cites W2184837125 @default.
• W3211639968 cites W2291595806 @default.
• W3211639968 cites W2333950822 @default.
• W3211639968 cites W2398325081 @default.
• W3211639968 cites W2466931552 @default.
• W3211639968 cites W2589064393 @default.
• W3211639968 cites W2613615193 @default.
• W3211639968 cites W2624440253 @default.
• W3211639968 cites W2734610357 @default.
• W3211639968 cites W2764236945 @default.
• W3211639968 cites W2765690931 @default.
• W3211639968 cites W2784325732 @default.
• W3211639968 cites W2789551185 @default.
• W3211639968 cites W2885500886 @default.
• W3211639968 cites W2901223338 @default.
• W3211639968 cites W2981907962 @default.
• W3211639968 cites W3013463267 @default.
• W3211639968 doi "https://doi.org/10.1172/jci.insight.153474" @default.
• W3211639968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34784297" @default.
• W3211639968 hasPublicationYear "2021" @default.
• W3211639968 type Work @default.
• W3211639968 sameAs 3211639968 @default.
• W3211639968 citedByCount "3" @default.
• W3211639968 countsByYear W32116399682022 @default.
• W3211639968 countsByYear W32116399682023 @default.
• W3211639968 crossrefType "journal-article" @default.
• W3211639968 hasAuthorship W3211639968A5014532793 @default.
• W3211639968 hasAuthorship W3211639968A5034038476 @default.
• W3211639968 hasAuthorship W3211639968A5037316485 @default.
• W3211639968 hasAuthorship W3211639968A5040580983 @default.
• W3211639968 hasAuthorship W3211639968A5047946163 @default.
• W3211639968 hasAuthorship W3211639968A5055538365 @default.
• W3211639968 hasAuthorship W3211639968A5057034573 @default.
• W3211639968 hasAuthorship W3211639968A5082772784 @default.
• W3211639968 hasAuthorship W3211639968A5085587731 @default.
• W3211639968 hasAuthorship W3211639968A5085758352 @default.
• W3211639968 hasAuthorship W3211639968A5089305746 @default.
• W3211639968 hasBestOaLocation W32116399681 @default.
• W3211639968 hasConcept C104317684 @default.

• next