Results 71 to 80 of about 5,338 (235)
ABSTRACT Background Muscle RING finger (MuRF) proteins are striated muscle‐specific E3 ubiquitin ligases essential for muscle homeostasis. Whereas MuRF1 is well known for its role in muscle atrophy, MuRF2 and MuRF3 contribute to microtubule stabilization, influencing muscle differentiation and function.
Ning Li +13 more
wiley +1 more source
Following the publication of this paper [1], it was brought to the authors’ attention that one of the contributing authors was left off of the paper. The authors apologize for the unfortunate oversight.
Frank Li +7 more
doaj +1 more source
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]
We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie +8 more
core
Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin [PDF]
In skeletal muscle, nebulin stabilizes and regulates the length of thin filaments, but the underlying mechanism remains nebulous. In this work, we used cryo-electron tomography and subtomogram averaging to reveal structures of native nebulin bound to ...
Gautel, M. +6 more
core +3 more sources
ABSTRACT Dry‐aged beef is valued for its tenderness, complex aroma, and concentrated flavor. However, variability in aging protocols and limited understanding of underlying biological and technological processes can compromise consistent quality and safety.
Ana J. Ribeiro +3 more
wiley +1 more source
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
Nuno Maia +8 more
doaj +1 more source
Angiotensin I converting enzyme (ACE) inhibitory peptides from fermented foods exhibit great potential to alleviate hypertension. In this study, the peptide extract from Chouguiyu exhibited a good inhibition effect on ACE, and the inhibition rate was ...
Daqiao Yang +17 more
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
ABSTRACT Background and Purpose Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding these conditions.
David Gómez‐Andrés +8 more
wiley +1 more source
An integrated diagnosis strategy for congenital myopathies. [PDF]
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with
Johann Böhm +18 more
doaj +1 more source

