The nemaline myopathies constitute a large proportion of the congenital or structural
myopathies. Common to all patients is muscle weakness and the presence in the muscle …

Small angle X-ray fiber diffraction is the method of choice for obtaining molecular level
structural information from striated muscle fibers under hydrated physiological conditions …

Protein synthesis generally starts with a methionine that is removed during translation.
However, cytoplasmic actin defies this rule because its synthesis involves noncanonical …

Muscle ankyrin repeat protein 1 (MARP1) is frequently up-regulated in stressed muscle, but
its effect on skeletal muscle function is poorly understood. Here, we focused on its …

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and
muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC …

Nemaline myopathy is one of the most common non-dystrophic congenital myopathies.
Individuals affected by this condition experience muscle weakness and muscle smallness …

The cardiac sarcomere is a cellular structure in the heart that enables muscle cells to
contract. Dozens of proteins belong to the cardiac sarcomere, which work in tandem to …

In this cross-sectional study, we comprehensively assessed respiratory muscle function in
various clinical forms of nemaline myopathy (NM) including non-volitional tests for …

Actin filaments help in maintaining the cell structure and coordinating cellular movements
and cargo transport within the cell. Actin participates in the interaction with several proteins …

Nemaline myopathy, a disease of the actin-based thin filament, is one of the most frequent
congenital myopathies. To date, no specific therapy is available to treat muscle weakness in …