Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory
mechanism in eukaryotic gene expression that controls the proper function of proteins. It is …

The normal function of the human myocardium requires the proper generation and utilization
of energy and relies on a series of complex metabolic processes to achieve this normal …

Alternative splicing has a major role in cardiac adaptive responses, as exemplified by the
isoform switch of the sarcomeric protein titin, which adjusts ventricular filling. By positional …

Background Congenital disorders of glycosylation are genetic syndromes that result in
impaired glycoprotein production. We evaluated patients who had a novel recessive …

3', 5'-cyclic adenosine monophosphate (cAMP) mediates the effects of sympathetic
stimulation on the rate and strength of cardiac contraction. Beyond this pivotal role, in …

The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …

Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …

Dilated cardiomyopathy (DCM) is a leading cause of heart failure. In families with autosomal-
dominant DCM, heterozygous missense mutations were identified in RNA-binding motif …

Abstract Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common
N-linked congenital disorders of glycosylation (CDG) in humans. Affected individuals …