Understanding the functions of titin and nebulin [PDF]
FEBS Letters, 1992 Individual molecules of the giant muscle proteins titin and nebulin span large distances in the sarcomere. Approximately one-third of the titin molecule forms elastic filaments linking the ends of thick filaments to the Z-line.
Trinick, John, John Trinick
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NEBULIN, A HELICAL ACTIN-BINDING PROTEIN [PDF]
The EMBO Journal, 1994 Nebulin, a giant protein (molecular mass 800 kDa) specific for the skeletal muscle of vertebrates, has been suggested to be involved in the length regulation of the thin filament as a 'molecular ruler'.
PFUHL M +3 more
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Nebulin : A Study of Protein Repeat Evolution
Journal of Molecular Biology, 2010 Protein domain repeats are common in proteins that are central to the organization of a cell, in particular in eukaryotes. They are known to evolve through internal tandem duplications.
Rauan Sagit +11 more
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Nebulin: Does It Measure up as a Ruler? [PDF]
Current Biology, 2006 A recent study has shown that the giant protein nebulin maintains the lengths of actin filaments in striated muscle cells. Although on the surface, nebulin looks like a molecular ruler, it may be playing a more complex role in regulating dynamics at the ...
Fowler, Velia M. +2 more
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The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization [PDF]
Frontiers in Physiology, 2012 The sliding filament model of the sarcomere was developed more than half a century ago. This model, consisting only of thin and thick filaments, has been successful in explaining many, but not all, features of skeletal muscle.
Coen eOttenheijm +3 more
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Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin [PDF]
FEBS Letters, 2002 Skeletal muscle nebulin is thought to determine thin filament length and regulate actomyosin interaction in a calcium/calmodulin or S100 sensitive manner.
Ma, Kan, Kan Ma, Wang, Kuan, Kuan Wang
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CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6. [PDF]
Clin GenetCRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Misceo D +7 more
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Correlation between Conformational and Binding Properties of Nebulin Repeats
Journal of Molecular Biology, 1996 Nebulin, a large protein (600 to 800 kDa) located in the thin filament of striated vertebrate muscle, is assumed to bind and stabilise F-actin. Complete sequence determination of human nebulin has only recently been accomplished showing a uniform modular
A. PASTORE +9 more
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Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]
Clin GenetWe present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Zídková J +26 more
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Characterization of amphioxus nebulin and its similarity to human nebulin [PDF]
Journal of Experimental Biology, 2009 SUMMARYIdentification of a large molecule in muscle is important but difficult to approach by protein chemistry. In this study we isolated nebulin cDNA from the striated muscle of amphioxus, and characterized the C-terminal regions of nebulins from other chordates.
Akira, Hanashima +2 more
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