Results 11 to 20 of about 5,338 (235)
Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function [PDF]
Skeletal Muscle, 2020 Background Nebulin is a critical thin filament-binding protein that spans from the Z-disk of the skeletal muscle sarcomere to near the pointed end of the thin filament.
Frank Li +7 more
doaj +3 more sources
PLoS ONE, 2019 Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is characterized by muscle weakness for which currently no treatments exist.
Johan Lindqvist +4 more
doaj +2 more sources
Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease [PDF]
Biology Open, 2019 Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu +4 more
doaj +2 more sources
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'. Despite its size, nebulin appears to be composed mainly of small repeats of approximately 35 amino acids.
Mark Pfuhl +2 more
openalex +4 more sources
NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. [PDF]
Hum Mol Genet, 2023 Casey JG +5 more
europepmc +3 more sources
Nebulin, a multi-functional giant [PDF]
Journal of Experimental Biology, 2016 ABSTRACT Efficient muscle contraction in skeletal muscle is predicated on the regulation of actin filament lengths. In one long-standing model that was prominent for decades, the giant protein nebulin was proposed to function as a ‘molecular ruler’ to specify the lengths of the thin filaments.
Miensheng Chu +2 more
openalex +4 more sources
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
europepmc +2 more sources
Nebulin regulates actin filament lengths by a stabilization mechanism [PDF]
The Journal of General Physiology, 2010 Efficient muscle contraction requires regulation of actin filament lengths. In one highly cited model, the giant protein nebulin has been proposed to function as a molecular ruler specifying filament lengths. We directly challenged this hypothesis by constructing a unique, small version of nebulin (mini-nebulin).
Christopher T. Pappas +2 more
openalex +3 more sources
Nebulin: big protein with big responsibilities [PDF]
Journal of Muscle Research and Cell Motility, 2020 AbstractNebulin, encoded byNEB, is a giant skeletal muscle protein of about 6669 amino acids which forms an integral part of the sarcomeric thin filament. In recent years, the nebula around this protein has been largely lifted resulting in the discovery that nebulin is critical for a number of tasks in skeletal muscle.
Michaela Yuen, Coen A. C. Ottenheijm
openaire +4 more sources
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
PLoS ONE, 2022 The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Lydia Sagath +4 more
doaj +1 more source