Ontology highlight
ABSTRACT:
SUBMITTER: Qiao C
PROVIDER: S-EPMC4429733 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Qiao Chunping C Wang Chi-Hsien CH Zhao Chunxia C Lu Peijuan P Awano Hiroyuki H Xiao Bin B Li Jianbin J Yuan Zhenhua Z Dai Yi Y Martin Carrie Bette CB Li Juan J Lu Qilong Q Xiao Xiao X
Molecular therapy : the journal of the American Society of Gene Therapy 20140722 11
Mutations in fukutin-related protein (FKRP) gene cause a wide spectrum of disease phenotypes including the mild limb-girdle muscular dystrophy 2I (LGMD2I), the severe Walker-Warburg syndrome, and muscle-eye-brain disease. FKRP deficiency results in α-dystroglycan (α-DG) hypoglycosylation in the muscle and heart, which is a biochemical hallmark of dystroglycanopathies. To study gene replacement therapy, we generated and characterized a new mouse model of LGMD2I harboring the human mutation leucin ...[more]