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Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression

Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease caused by defective glycosylation of α-dystroglycan (α-DG) exhibit defective photoreceptor synaptic function. Mouse knockouts of dystroglycan and its extracellular matrix binding partner pikachurin recapitulate this phenotype. In...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Hu, Huaiyu, Li, Jing, Zhang, Zhen, Yu, Miao
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2010
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3018538/
https://ncbi.nlm.nih.gov/pubmed/21129441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2010.11.056
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