@article{4c7bc2fcc825429a85f3dacab4b88876,
title = "Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E",
abstract = "Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscle. β-sarcoglycan-deficient (Sgcb-null) mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan-sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. ε-sarcoglycan was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct ε-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. Thus, perturbation of vascular function together with disruption of the ε-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E.",
author = "Madeleine Durbeej and Conn, {Ronald D.} and Hrstka, {Ronald F.} and Moore, {Steven A.} and Val{\'e}rie Allamand and Davidson, {Beverly L.} and Williamson, {Roger A.} and Campbell, {Kevin P.}",
note = "Funding Information: We thank the following for their contributions to this work: Shawn Miller and Sarah Haidri (both from the University of Iowa, Iowa City, IA) for expert technical assistance; Connie Lebakken for providing sarcospan antibodies; Richard Anderson of the University of Iowa Gene Transfer Vector Core (supported in part by the Carver foundation) for adenovirus construction, isolation and purification; Mark Grady and Joshua Sanes (both from Washington University School of Medicine) for providing mdx/utr +/− mice; and members of the Campbell laboratory for the critical reading of the manuscript. All DNA sequencing was carried out at the University of Iowa DNA core facility (NIH DK25295). M. D. was supported by The Swedish Foundation for International Cooperation in Research and Higher Education (STINT). R. D. C. was supported by the Deutsche Forschungsgemeinschaft. The Muscular Dystrophy Association also supported this work (V. A., R. A. W., and K. P. C.). K. P. C. is an investigator with the Howard Hughes Medical Institute.",
year = "2000",
month = jan,
doi = "10.1016/S1097-2765(00)80410-4",
language = "English (US)",
volume = "5",
pages = "141--151",
journal = "Molecular cell",
issn = "1097-2765",
publisher = "Cell Press",
number = "1",
}