The SYNGAP1 3′UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK

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Using human iPS cells, scientists identify the genetic variant causing ALS in some patients NagoyaUniv_info sfnjournals

3′UTR sequence was amplified from the plasmids produced in the 3′ rapid amplification of cDNA ends of wild-type iPSC-derived motor neurons. The mutation was introduced using the PrimeSTAR Mutagenesis Basal kit , according to the manufacturer's instructions.

The immunofluorescent signal intensity was measured by ZEN software . The quantification of spine number was performed as described previously . Regions of dendrites located 30–100 µm from the cell soma that did not intersect with other dendrites were selected. The numbers of spines, labeled with Alexa Fluor 488-conjugated phalloidin, were counted over a region of 20 µm in length. The number of spines was counted independently, without sample information.

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