期刊
BIOESSAYS
卷 44, 期 5, 页码 -出版社
WILEY
DOI: 10.1002/bies.202100270
关键词
collagen; congenital muscular dystrophies; elasticity; extracellular matrix; fibronectin; FKRP; Golgi; muscle basement membrane; Myosin-10; Trans-Golgi Network
资金
- National Health and Medical Research Council [GNT1136567]
The recently discovered role of FKRP in fibronectin glycosylation challenges our understanding of the pathogenesis of muscular dystrophies.
The recently uncovered role of Fukutin-related protein (FKRP) in fibronectin glycosylation has challenged our understanding of the basis of disease pathogenesis in the muscular dystrophies. FKRP is a Golgi-resident glycosyltransferase implicated in a broad spectrum of muscular dystrophy (MD) pathologies that are not fully attributable to the well-described alpha-Dystroglycan hypoglycosylation. By revealing a new role for FKRP in the glycosylation of fibronectin, a modification critical for the development of the muscle basement membrane (MBM) and its associated muscle linkages, new possibilities for understanding clinical phenotype arise. This modification involves an interaction between FKRP and myosin-10, a protein involved in the Golgi organization and function. These observations suggest a FKRP nexus exists that controls two critical aspects to muscle fibre integrity, both fibre stability at the MBM and its elastic properties. This review explores the new potential disease axis in the context of our current knowledge of muscular dystrophies.
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