A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan

Dystroglycan, an extracellular matrix receptor, has essential functions in various tissues. Loss of α‐dystroglycan‐laminin interaction due to defective glycosylation of α‐dystroglycan underlies a group of congenital muscular dystrophies often associated with brain malformations, referred to as dystr...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:EMBO Rep
Prif Awduron: Kim, Jihee, Lana, Beatrice, Torelli, Silvia, Ryan, David, Catapano, Francesco, Ala, Pierpaolo, Luft, Christin, Stevens, Elizabeth, Konstantinidis, Evangelos, Louzada, Sandra, Fu, Beiyuan, Paredes‐Redondo, Amaia, Chan, AW Edith, Yang, Fengtang, Stemple, Derek L, Liu, Pentao, Ketteler, Robin, Selwood, David L, Muntoni, Francesco, Lin, Yung‐Yao
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6832011/
https://ncbi.nlm.nih.gov/pubmed/31566294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embr.201947967
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