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- W2809192712 endingPage "61" @default.
- W2809192712 startingPage "31" @default.
- W2809192712 abstract "Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant mortality. More than 90% cases of SMA result from deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, does not compensate for the loss of SMN1 due to predominant skipping of exon 7. However, correction of SMN2 exon 7 splicing has proven to confer therapeutic benefits in SMA patients. The only approved drug for SMA is an antisense oligonucleotide (Spinraza™/Nusinersen), which corrects SMN2 exon 7 splicing by blocking intronic splicing silencer N1 (ISS-N1) located immediately downstream of exon 7. ISS-N1 is a complex regulatory element encompassing overlapping negative motifs and sequestering a cryptic splice site. More than 40 protein factors have been implicated in the regulation of SMN exon 7 splicing. There is evidence to support that multiple exons of SMN are alternatively spliced during oxidative stress, which is associated with a growing number of pathological conditions. Here, we provide the most up to date account of the mechanism of splicing regulation of the SMN genes." @default.
- W2809192712 created "2018-06-29" @default.
- W2809192712 creator A5004611185 @default.
- W2809192712 creator A5061593500 @default.
- W2809192712 date "2018-01-01" @default.
- W2809192712 modified "2023-10-14" @default.
- W2809192712 title "Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes" @default.
- W2809192712 cites W145804815 @default.
- W2809192712 cites W1488980960 @default.
- W2809192712 cites W1496012912 @default.
- W2809192712 cites W1584773830 @default.
- W2809192712 cites W1926044927 @default.
- W2809192712 cites W1963990067 @default.
- W2809192712 cites W1964668113 @default.
- W2809192712 cites W1965215719 @default.
- W2809192712 cites W1968479063 @default.
- W2809192712 cites W1970302143 @default.
- W2809192712 cites W1971655161 @default.
- W2809192712 cites W1975687045 @default.
- W2809192712 cites W1977201375 @default.
- W2809192712 cites W1977595548 @default.
- W2809192712 cites W1980477780 @default.
- W2809192712 cites W1982614797 @default.
- W2809192712 cites W1984502430 @default.
- W2809192712 cites W1986739119 @default.
- W2809192712 cites W1987441541 @default.
- W2809192712 cites W1990084147 @default.
- W2809192712 cites W1990253997 @default.
- W2809192712 cites W1997761582 @default.
- W2809192712 cites W1998671407 @default.
- W2809192712 cites W1999609473 @default.
- W2809192712 cites W2008156561 @default.
- W2809192712 cites W2015809578 @default.
- W2809192712 cites W2024685343 @default.
- W2809192712 cites W2025722577 @default.
- W2809192712 cites W2026210277 @default.
- W2809192712 cites W2027884698 @default.
- W2809192712 cites W2028920559 @default.
- W2809192712 cites W2029979788 @default.
- W2809192712 cites W2034869993 @default.
- W2809192712 cites W2034960937 @default.
- W2809192712 cites W2039297214 @default.
- W2809192712 cites W2040519762 @default.
- W2809192712 cites W2040780606 @default.
- W2809192712 cites W2046808917 @default.
- W2809192712 cites W2047332793 @default.
- W2809192712 cites W2049842485 @default.
- W2809192712 cites W2051088910 @default.
- W2809192712 cites W2052064222 @default.
- W2809192712 cites W2053428226 @default.
- W2809192712 cites W2054380003 @default.
- W2809192712 cites W2055583355 @default.
- W2809192712 cites W2059681604 @default.
- W2809192712 cites W2061162360 @default.
- W2809192712 cites W2062066078 @default.
- W2809192712 cites W2066678157 @default.
- W2809192712 cites W2074543472 @default.
- W2809192712 cites W2077548086 @default.
- W2809192712 cites W2083668516 @default.
- W2809192712 cites W2088338354 @default.
- W2809192712 cites W2091741479 @default.
- W2809192712 cites W2093748431 @default.
- W2809192712 cites W2097956925 @default.
- W2809192712 cites W2102794547 @default.
- W2809192712 cites W2104412616 @default.
- W2809192712 cites W2105010877 @default.
- W2809192712 cites W2108430210 @default.
- W2809192712 cites W2108665093 @default.
- W2809192712 cites W2112926594 @default.
- W2809192712 cites W2113525941 @default.
- W2809192712 cites W2119815283 @default.
- W2809192712 cites W2122183801 @default.
- W2809192712 cites W2122727084 @default.
- W2809192712 cites W2123408008 @default.
- W2809192712 cites W2125887220 @default.
- W2809192712 cites W2130239744 @default.
- W2809192712 cites W2132110012 @default.
- W2809192712 cites W2135175348 @default.
- W2809192712 cites W2136860943 @default.
- W2809192712 cites W2136897192 @default.
- W2809192712 cites W2137174006 @default.
- W2809192712 cites W2138092997 @default.
- W2809192712 cites W2138294288 @default.
- W2809192712 cites W2139480586 @default.
- W2809192712 cites W2143350291 @default.
- W2809192712 cites W2143873927 @default.
- W2809192712 cites W2144265586 @default.
- W2809192712 cites W2145237484 @default.
- W2809192712 cites W2145606896 @default.
- W2809192712 cites W2147491566 @default.
- W2809192712 cites W2149466079 @default.
- W2809192712 cites W2149574104 @default.
- W2809192712 cites W2152766938 @default.
- W2809192712 cites W2153279694 @default.
- W2809192712 cites W2153833484 @default.
- W2809192712 cites W2158482911 @default.
- W2809192712 cites W2165235225 @default.
- W2809192712 cites W2165804548 @default.