title: Expression of glycosylated α-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice.
abstract: Mutations in the Fukutin related protein (FKRP) gene are characterized by a lack of functionally glycosylated α-dystroglycan (F-α-DG) in muscles. A small number of fibers retain the capacity to produce strong IIH6 reactive glycosylated-α-DG (g-α-DG) in muscles of both FKRP mutant animals and patients.
  
  
  
  We examined the expression of g-α-DG in limb, diaphragm, and cardiac muscles of newborn FKRP mutants and LARGEmydmice with IIH6 antibody.
  
  
  
  Near-normal levels of g-α-DG were detected in all 3 muscles in the FKRP448LNeo- mutant. Expression was limited within the first 8 postnatal days with decreasing levels. No expression was identified in LARGEmydmice.
  
  
  
  Temporary expression of glycosylated-α-DG in newborn FKRP mutant muscles is LARGE- and mutant FKRP-dependent. The capability of mutant FKRP with a severe clinic phenotype to produce glycosylated-α-DG provides a new perspective for possible approaches to mitigate FKRP deficiency. Muscle Nerve 55: 582-590, 2017.
authors: McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1542 Garden Terrace, Charlotte, North Carolina, 28203, USA.
authors: Elizabeth
authors: E
authors: Keramaris
authors: McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1542 Garden Terrace, Charlotte, North Carolina, 28203, USA.
authors: Pei J
authors: PJ
authors: Lu
authors: McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1542 Garden Terrace, Charlotte, North Carolina, 28203, USA.
authors: Jason
authors: J
authors: Tucker
authors: McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1542 Garden Terrace, Charlotte, North Carolina, 28203, USA.
authors: Qi L
authors: QL
authors: Lu
mesh_terms: D000367:Age Factors; D000818:Animals; D000831:Animals, Newborn; D049030:Dystroglycans / Q000235:genetics / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D018482:Muscle, Skeletal / Q000254:growth & development / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism*; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*; D014166:Transferases
chemical_list: D011506:Proteins; D049030:Dystroglycans; D014166:Transferases; C499093:Fkrp protein, mouse; D010430:Pentosyltransferases
keywords: FKRP; LGMD; dystroglycanopathy; heart; α-dystroglycan