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- W2165799666 endingPage "e106818" @default.
- W2165799666 startingPage "e106818" @default.
- W2165799666 abstract "Proximal spinal muscular atrophy (SMA) is an early onset, autosomal recessive motor neuron disease caused by loss of or mutation in SMN1 (survival motor neuron 1). Despite understanding the genetic basis underlying this disease, it is still not known why motor neurons (MNs) are selectively affected by the loss of the ubiquitously expressed SMN protein. Using a mouse embryonic stem cell (mESC) model for severe SMA, the RNA transcript profiles (transcriptomes) between control and severe SMA (SMN2+/+;mSmn-/-) mESC-derived MNs were compared in this study using massively parallel RNA sequencing (RNA-Seq). The MN differentiation efficiencies between control and severe SMA mESCs were similar. RNA-Seq analysis identified 3,094 upregulated and 6,964 downregulated transcripts in SMA mESC-derived MNs when compared against control cells. Pathway and network analysis of the differentially expressed RNA transcripts showed that pluripotency and cell proliferation transcripts were significantly increased in SMA MNs while transcripts related to neuronal development and activity were reduced. The differential expression of selected transcripts such as Crabp1, Crabp2 and Nkx2.2 was validated in a second mESC model for SMA as well as in the spinal cords of low copy SMN2 severe SMA mice. Furthermore, the levels of these selected transcripts were restored in high copy SMN2 rescue mouse spinal cords when compared against low copy SMN2 severe SMA mice. These findings suggest that SMN deficiency affects processes critical for normal development and maintenance of MNs." @default.
- W2165799666 created "2016-06-24" @default.
- W2165799666 creator A5028163347 @default.
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- W2165799666 date "2014-09-05" @default.
- W2165799666 modified "2023-09-25" @default.
- W2165799666 title "Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells" @default.
- W2165799666 cites W1538129425 @default.
- W2165799666 cites W1554872850 @default.
- W2165799666 cites W1577577364 @default.
- W2165799666 cites W1750475935 @default.
- W2165799666 cites W1969547581 @default.
- W2165799666 cites W1977742361 @default.
- W2165799666 cites W1980477780 @default.
- W2165799666 cites W1981509058 @default.
- W2165799666 cites W1982632616 @default.
- W2165799666 cites W1986164507 @default.
- W2165799666 cites W1987687980 @default.
- W2165799666 cites W1988630343 @default.
- W2165799666 cites W1990393476 @default.
- W2165799666 cites W1991044118 @default.
- W2165799666 cites W1996417439 @default.
- W2165799666 cites W1996531448 @default.
- W2165799666 cites W1999864280 @default.
- W2165799666 cites W2000101032 @default.
- W2165799666 cites W2000725203 @default.
- W2165799666 cites W2002575873 @default.
- W2165799666 cites W2002912370 @default.
- W2165799666 cites W2006010879 @default.
- W2165799666 cites W2013962254 @default.
- W2165799666 cites W2016207006 @default.
- W2165799666 cites W2019293837 @default.
- W2165799666 cites W2021314069 @default.
- W2165799666 cites W2032647711 @default.
- W2165799666 cites W2034435537 @default.
- W2165799666 cites W2035528004 @default.
- W2165799666 cites W2036897871 @default.
- W2165799666 cites W2038596854 @default.
- W2165799666 cites W2040265875 @default.
- W2165799666 cites W2043807089 @default.
- W2165799666 cites W2045117117 @default.
- W2165799666 cites W2047268435 @default.
- W2165799666 cites W2049308683 @default.
- W2165799666 cites W2054380003 @default.
- W2165799666 cites W2060940070 @default.
- W2165799666 cites W2070086105 @default.
- W2165799666 cites W2071312430 @default.
- W2165799666 cites W2071346782 @default.
- W2165799666 cites W2076804507 @default.
- W2165799666 cites W2085465310 @default.
- W2165799666 cites W2088820444 @default.
- W2165799666 cites W2095875854 @default.
- W2165799666 cites W2097065948 @default.
- W2165799666 cites W2097117811 @default.
- W2165799666 cites W2099624163 @default.
- W2165799666 cites W2100305481 @default.
- W2165799666 cites W2101513476 @default.
- W2165799666 cites W2102883851 @default.
- W2165799666 cites W2107575419 @default.
- W2165799666 cites W2108075874 @default.
- W2165799666 cites W2108430210 @default.
- W2165799666 cites W2109561158 @default.
- W2165799666 cites W2110733747 @default.
- W2165799666 cites W2112430789 @default.
- W2165799666 cites W2113242990 @default.
- W2165799666 cites W2114570899 @default.
- W2165799666 cites W2115034448 @default.
- W2165799666 cites W2117528919 @default.
- W2165799666 cites W2117532375 @default.
- W2165799666 cites W2118258530 @default.
- W2165799666 cites W2118748690 @default.
- W2165799666 cites W2119330162 @default.
- W2165799666 cites W2119878613 @default.
- W2165799666 cites W2120269690 @default.
- W2165799666 cites W2122372964 @default.
- W2165799666 cites W2122420087 @default.
- W2165799666 cites W2123138405 @default.
- W2165799666 cites W2123806948 @default.
- W2165799666 cites W2125953041 @default.
- W2165799666 cites W2127078028 @default.
- W2165799666 cites W2131951074 @default.
- W2165799666 cites W2132519155 @default.
- W2165799666 cites W2134569854 @default.
- W2165799666 cites W2135107819 @default.
- W2165799666 cites W2136231875 @default.
- W2165799666 cites W2136868631 @default.
- W2165799666 cites W2137021233 @default.
- W2165799666 cites W2138743196 @default.
- W2165799666 cites W2140756516 @default.
- W2165799666 cites W2141047754 @default.
- W2165799666 cites W2141458291 @default.
- W2165799666 cites W2145492799 @default.