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Publications
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Below is a partial listing of laboratory publications (with links to abstracts) categorized by subject area. Please select from the following categories:
Cloning and characterization of genes for sarcomeric Z line proteins
Alpha-actinins in human normal and disease states
Genetics of congenital myopathies
Genetics of Duchenne/Becker and other muscular dystrophies
Genetic mapping studies of hereditary neuromuscular disorders
Genetics of an inherited cardiac arrhythmia, long QT syndrome
Collaborations on other genes, proteins and diseases
Genetics of Diamond Blackfan Anemia
Gene expression studies of normal and diseased muscles
Pathophysiology of congenital myopathies
Basic biology of skeletal muscle
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Cloning and characterization of genes for sarcomeric Z line proteins
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Beggs AH, Byers TJ, Knoll JHM, Boyce FM, Bruns GAP, Kunkel LM. Cloning and characterization of two human skeletal muscle a-actinin genes located on chromosomes one and eleven. J Biol Chem 1992; 267:9281-9288.
Wyszynski M, Lin J, Rao A, Nigh E, Beggs AH, Craig AM, Sheng M. Competitive binding of a-actinin and calmodulin to the NMDA receptor. Nature, 1997; 385:439-442.
Wyszynski M, Kharazia V, Shanghvi R, Rao A, Beggs AH, Craig AM, Weinberg R, Sheng M. Differential regional expression and ultrastructural localization of a-actinin-2, a putative NMDA receptor anchoring protein, in rat brain. J Neurosci, 1998;18:1383-1392.
Chan Y, Tong HQ, Beggs AH, Kunkel LM. Human skeletal muscle-specific a-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Comm, 1998; 248:134-139.
Hance JE, Fu SY, Watkins SC, Beggs AH, Michalak M. a2-actinin is a new component of the dystrophin glycoprotein complex. Arch Biochem Biophys, 1999; 365:216-222.
Takada F, Vander Woude DL, Tong H-Q, Thompson TG, Watkins SC, Kunkel LM, Beggs AH. Myozenin: An a-actinin and g-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci USA, 2001; 98:1595-1600.
Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin binding proteins, a-actinin-2 and -3 in different species: implications for the evolution of functional redundancy. Hum Molec Genet, 2001; 10:1335-1346.
Takada F, Beggs AH. a-Actinins. In: Encyclopedia of Molecular Medicine. Creighton TE ed. J Wiley & Sons, Inc., New York 2002; 122-127.
Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong H-Q, Mathis BJ, Rodriguez-Perez J-C, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding a-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genetics, 2000; 24:251-256.
Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance.American Journal of Human Genetics, 2003; 73: 627-31.
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Alpha-actinins in human normal and disease states
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North KN, Beggs AH. Deficiency of a skeletal muscle isoform of a-actinin (a-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscular Disorders, 1996; 6:229-235.
Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, Beggs AH, Zatz M. Deficiency of a-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropediatrics, 1997; 28:223-228.
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Genetics of congenital myopathies
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