Jihee Kim, Beatrice Lana, Silvia Torelli, David Ryan, Francesco Catapano, Pierpaolo Ala, Christin Luft, Elizabeth Stevens, Evangelos Konstantinidis, Sandra Louzada, Beiyuan Fu, Amaia Paredes-Redondo, Aw Edith Chan, Fengtang Yang, Derek L Stemple, Pentao Liu, Robin Ketteler, David L Selwood, Francesco Muntoni, Yung-Yao Lin
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 dystroglycanopathies. The lack of isogenic human dystroglycanopathy cell models has limited our ability to test potential drugs in a human- and neural-specific context. Here, we generated induced pluripotent stem cells (iPSCs) from a severe dystroglycanopathy patient with homozygous FKRP (fukutin-related protein gene) mutation...
November 5, 2019: EMBO Reports