A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein

Autor: Signorino G (1), Covaceuszach S (2), Bozzi M (1), (3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3), (6), Sciandra F (3).

Publikováno v: Human mutation 39 (2018): 266–280.
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39

Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated ?-DG and the transmembrane ?-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by

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http://www.cnr.it/prodotto/i/390142