FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2311453039> ?p ?o ?g. }

• W2311453039 abstract "Abstract Spinal Muscular Atrophy (SMA) is caused by deletion or mutation of the Survival Motor Neuron 1 gene ( SMN1 )1, but the mechanism whereby reduced levels of SMN protein lead to disease is unknown. SMN functions in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and potential splicing defects have been uncovered in various animal models of SMA. We used disruptions in Smn and two additional snRNP biogenesis genes, Phax and Ars2 , to classify RNA processing differences as snRNP-dependent or Smn gene specific in Drosophila . Although more numerous, the processing changes in Ars2 mutants were generally distinct from those identified in Phax and Smn animals. Phax and Smn null mutants exhibited comparable reductions in steady-state snRNA levels, and direct comparison of their transcriptomes uncovered a shared set of alternative splicing changes. Transgenic expression of Phax and Smn in the respective mutant backgrounds significantly rescued both snRNA levels as well as alternative splicing. When compared to the Smn wild-type rescue line, three additional disease models (bearing SMA-causing point mutations in Smn ) displayed only small-to-indistinguishable differences in snRNA levels and the identified splicing disruptions. Comparison of these intermediate SMA models revealed fewer than 10% shared splicing differences. Instead, the three Smn point mutants displayed common increases in stress responsive transcripts that correlated with phenotypic severity. These findings uncouple organismal viability defects from the general housekeeping function of SMN and suggest that SMN-specific changes in gene expression may be important for understanding how loss of SMN ultimately causes disease." @default.
• W2311453039 created "2016-06-24" @default.
• W2311453039 creator A5026268150 @default.
• W2311453039 creator A5050446038 @default.
• W2311453039 creator A5077942573 @default.
• W2311453039 creator A5083677717 @default.
• W2311453039 date "2016-03-19" @default.
• W2311453039 modified "2023-10-15" @default.
• W2311453039 title "Transcriptomic comparison of Drosophila snRNP biogenesis mutants: implications for Spinal Muscular Atrophy" @default.
• W2311453039 cites W1529659500 @default.
• W2311453039 cites W1858745229 @default.
• W2311453039 cites W1967967488 @default.
• W2311453039 cites W1973181654 @default.
• W2311453039 cites W1973854455 @default.
• W2311453039 cites W1977752020 @default.
• W2311453039 cites W1978520851 @default.
• W2311453039 cites W1979765627 @default.
• W2311453039 cites W1980477780 @default.
• W2311453039 cites W1981218311 @default.
• W2311453039 cites W1984680116 @default.
• W2311453039 cites W1990377497 @default.
• W2311453039 cites W1990393476 @default.
• W2311453039 cites W1994425972 @default.
• W2311453039 cites W1995687414 @default.
• W2311453039 cites W1997244438 @default.
• W2311453039 cites W2000725203 @default.
• W2311453039 cites W2005796509 @default.
• W2311453039 cites W2008311491 @default.
• W2311453039 cites W2009221497 @default.
• W2311453039 cites W2014869884 @default.
• W2311453039 cites W2020541351 @default.
• W2311453039 cites W2021678907 @default.
• W2311453039 cites W2036065307 @default.
• W2311453039 cites W2042039207 @default.
• W2311453039 cites W2064539804 @default.
• W2311453039 cites W2066835429 @default.
• W2311453039 cites W2071307982 @default.
• W2311453039 cites W2071448535 @default.
• W2311453039 cites W2071515332 @default.
• W2311453039 cites W2074114726 @default.
• W2311453039 cites W2078655315 @default.
• W2311453039 cites W2080474741 @default.
• W2311453039 cites W2089049882 @default.
• W2311453039 cites W2092078018 @default.
• W2311453039 cites W2093827499 @default.
• W2311453039 cites W2096012750 @default.
• W2311453039 cites W2100220514 @default.
• W2311453039 cites W2100305481 @default.
• W2311453039 cites W2104099845 @default.
• W2311453039 cites W2106971401 @default.
• W2311453039 cites W2107667231 @default.
• W2311453039 cites W2110010240 @default.
• W2311453039 cites W2110243431 @default.
• W2311453039 cites W2117070981 @default.
• W2311453039 cites W2118748690 @default.
• W2311453039 cites W2119330162 @default.
• W2311453039 cites W2120269690 @default.
• W2311453039 cites W2123878770 @default.
• W2311453039 cites W2126079277 @default.
• W2311453039 cites W2133465414 @default.
• W2311453039 cites W2134360710 @default.
• W2311453039 cites W2134569854 @default.
• W2311453039 cites W2136565487 @default.
• W2311453039 cites W2136767988 @default.
• W2311453039 cites W2140814127 @default.
• W2311453039 cites W2143331193 @default.
• W2311453039 cites W2146117831 @default.
• W2311453039 cites W2146994504 @default.
• W2311453039 cites W2147328009 @default.
• W2311453039 cites W2150149658 @default.
• W2311453039 cites W2152899240 @default.
• W2311453039 cites W2153484644 @default.
• W2311453039 cites W2153640615 @default.
• W2311453039 cites W2157672028 @default.
• W2311453039 cites W2158217645 @default.
• W2311453039 cites W2159730169 @default.
• W2311453039 cites W2160874195 @default.
• W2311453039 cites W2166723435 @default.
• W2311453039 cites W2167364244 @default.
• W2311453039 cites W2169079081 @default.
• W2311453039 cites W2170787818 @default.
• W2311453039 cites W2172189627 @default.
• W2311453039 cites W2178904768 @default.
• W2311453039 cites W2309128823 @default.
• W2311453039 cites W4211177544 @default.
• W2311453039 cites W4214807762 @default.
• W2311453039 doi "https://doi.org/10.1101/044693" @default.
• W2311453039 hasPublicationYear "2016" @default.
• W2311453039 type Work @default.
• W2311453039 sameAs 2311453039 @default.
• W2311453039 citedByCount "1" @default.
• W2311453039 countsByYear W23114530392016 @default.
• W2311453039 crossrefType "posted-content" @default.
• W2311453039 hasAuthorship W2311453039A5026268150 @default.
• W2311453039 hasAuthorship W2311453039A5050446038 @default.
• W2311453039 hasAuthorship W2311453039A5077942573 @default.
• W2311453039 hasAuthorship W2311453039A5083677717 @default.
• W2311453039 hasBestOaLocation W23114530391 @default.
• W2311453039 hasConcept C100299639 @default.
• W2311453039 hasConcept C104317684 @default.

• next