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_19
Snippet: The LMAN2L p.R53Q variant associated with disease in the previously described family results in mutation of arginine to glutamine, which in the crystal structures of LMAN1 and LMAN2 is critical to their interactions with target glycoproteins, 4 supporting the predicted pathogenic nature of the variant in the associated syndrome. However, limited number of patients so far reported with mutations in LMAN2L and lack of evidence from functional assay.....
Document: The LMAN2L p.R53Q variant associated with disease in the previously described family results in mutation of arginine to glutamine, which in the crystal structures of LMAN1 and LMAN2 is critical to their interactions with target glycoproteins, 4 supporting the predicted pathogenic nature of the variant in the associated syndrome. However, limited number of patients so far reported with mutations in LMAN2L and lack of evidence from functional assays keeps the issue unsettled. In the present work we identified a second LMAN2L variant associated with a similar phenotype and demonstrated its effect on the protein's critical subcellular localization.
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