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_17
Snippet: Experimental mutation of the KRFY ER-retention signal result in mislocalizations of ER integral proteins, in the case of LMAN2L to the cell membrane. 7, 8 To test whether the natural mutation in the present family has the same effect, we transfected wt or mutated cDNA into HeLa cells and studied their localization using membrane fractionation/Western blotting and immunofluorescence microscopy and found the mutated protein to mislocalize the plasm.....
Document: Experimental mutation of the KRFY ER-retention signal result in mislocalizations of ER integral proteins, in the case of LMAN2L to the cell membrane. 7, 8 To test whether the natural mutation in the present family has the same effect, we transfected wt or mutated cDNA into HeLa cells and studied their localization using membrane fractionation/Western blotting and immunofluorescence microscopy and found the mutated protein to mislocalize the plasma membrane (Fig. 2 ).
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