Author: Alkhater, Reem A.; Wang, Peixiang; Ruggieri, Alessandra; Israelian, Lori; Walker, Susan; Scherer, Stephen W.; Smith, Mary Lou; Minassian, Berge A.
Title: Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy Document date: 2019_3_7
ID: 5rt5vuwu_5
Snippet: Whole exome sequencing (WES) was as previously described. 5 The human LMAN2L NM_001142292.1 cDNA was cloned into pcDNA3.1. The EQKLISEEDLA myc epitope was introduced downstream of the signal sequence cleavage site between codons for amino acids 44 and 45 ( Fig. 2A) . Site-directed mutagenesis on this wild-type (wt) construct generated the mutated version. Following sequence verification, the constructs were transfected into HeLa cells. Lysates we.....
Document: Whole exome sequencing (WES) was as previously described. 5 The human LMAN2L NM_001142292.1 cDNA was cloned into pcDNA3.1. The EQKLISEEDLA myc epitope was introduced downstream of the signal sequence cleavage site between codons for amino acids 44 and 45 ( Fig. 2A) . Site-directed mutagenesis on this wild-type (wt) construct generated the mutated version. Following sequence verification, the constructs were transfected into HeLa cells. Lysates were fractionated for cytosolic and light and plasma membrane proteins as previously described. 6 For microscopy, 24 h post-transfection cells were treated with 10 mg/mL cycloheximide for 2 h, fixed in 4% paraformaldehyde, and incubated with anti-myc antibody followed by Alexa 488-coupled anti-mouse IgG.
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