Results 171 to 180 of about 2,672 (202)
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Dystrophin and nebulin in the muscular dystrophies
Journal of the Neurological Sciences, 1988Skeletal muscle from patients with 5 different forms of muscular dystrophy and from 6 fetuses at high risk (95%) for Duchenne muscular dystrophy (DMD) were probed with specific antibodies for the presence of dystrophin and nebulin. Dystrophin was absent in all 5 patients with DMD and 4 of 6 fetuses at high risk for DMD and present in trace amounts in ...
K, Patel +4 more
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FEBS Journal, 1996
Nebulin is a family of giant myofibrillar proteins with molecular masses ranging over 700–900 kDa. Using a human nebulin cDNA probe, we isolated three nebulin cDNA clones from a mouse skeletal muscle cDNA library. These three clones, labeled 8c, 7a and 4b, carry inserts of 2.0, 3.0 and 3.5 kb, respectively.
Amy H Herrera, Robert Horowits
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Nebulin is a family of giant myofibrillar proteins with molecular masses ranging over 700–900 kDa. Using a human nebulin cDNA probe, we isolated three nebulin cDNA clones from a mouse skeletal muscle cDNA library. These three clones, labeled 8c, 7a and 4b, carry inserts of 2.0, 3.0 and 3.5 kb, respectively.
Amy H Herrera, Robert Horowits
exaly +3 more sources
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Neuromuscular Disorders, 2011 Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease.
Vilma-Lotta Lehtokari +2 more
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2008
Nebulin is an enormous protein of the muscle sarcomere. It is a determinant of thin filament length, Z-disk structure and fiber contractility. The nebulin gene contains four regions of alternative splicing, providing a wealth of different isoforms of the protein.
Katarina, Pelin +1 more
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Nebulin is an enormous protein of the muscle sarcomere. It is a determinant of thin filament length, Z-disk structure and fiber contractility. The nebulin gene contains four regions of alternative splicing, providing a wealth of different isoforms of the protein.
Katarina, Pelin +1 more
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Nebulin is normally expressed in nemaline myopathy
Acta Neuropathologica, 1999Since the nebulin gene is located in the candidate gene locus of autosomal recessive nemaline myopathy, 2q21.2-q22, we examined five muscle biopsy specimens with monoclonal and polyclonal antibodies against nebulin in combination with the modified Gomori trichrome stain. We were able to demonstrate immunohistochemically that there was no abnormality in
Seisuke Kimura +2 more
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Gene, 2019
Nebulin is a 770 kDa protein that is localized along the thin filaments of skeletal muscles in vertebrates. It is also present in the striated muscles of Amphioxus, an invertebrate cephalochordate that is phylogenetically close to vertebrates.
Akira, Nishikawa +4 more
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Nebulin is a 770 kDa protein that is localized along the thin filaments of skeletal muscles in vertebrates. It is also present in the striated muscles of Amphioxus, an invertebrate cephalochordate that is phylogenetically close to vertebrates.
Akira, Nishikawa +4 more
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Targeting of nebulin fragments to the cardiac sarcomere
Experimental Cell Research, 2007Nebulin, a vertebrate skeletal muscle actin binding protein, plays an important role in thin filament architecture. Recently, a number of reports have indicated evidence for nebulin expression in vertebrate hearts. To investigate the ability of nebulin to interact with cardiac myofilaments, we have expressed nebulin cDNA fragments tagged with green ...
Zivile, Panaviene +3 more
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SH3 in muscles: solution structure of the SH3 domain from nebulin
Journal of Molecular Biology, 1998 The huge modular protein nebulin is located in the thin filament of striated muscle in vertebrates and is thought to bind and stabilize F-actin. The C-terminal part of human nebulin is anchored in the sarcomeric Z-disk and contains an SH3 domain, the ...
A S Politou +2 more
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Structure and function of titin and nebulin
Current Opinion in Cell Biology, 1995Recent investigations of titin anchorage and elasticity have been supplemented with in vitro expression studies on isolated domains of titin and nebulin. These have yielded new insights into the molecular basis of the functions of these proteins in muscle.
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Biochemistry, 1997
Nebulin, a giant actin binding protein, coextends with actin and is thought to form a composite thin filament in the skeletal muscle sarcomere. To understand the molecular interactions between nebulin and actin, we have applied chemical cross-linking techniques to define molecular contacts between actin and ND8, a two-module nebulin fragment that ...
C L, Shih, M J, Chen, K, Linse, K, Wang
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Nebulin, a giant actin binding protein, coextends with actin and is thought to form a composite thin filament in the skeletal muscle sarcomere. To understand the molecular interactions between nebulin and actin, we have applied chemical cross-linking techniques to define molecular contacts between actin and ND8, a two-module nebulin fragment that ...
C L, Shih, M J, Chen, K, Linse, K, Wang
openaire +2 more sources