The term autophagy encompasses different pathways that route cytoplasmic material to
lysosomes for degradation and includes macroautophagy, chaperone-mediated autophagy …

Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Cardiomyopathies are a heterogeneous collection of diseases that have in common primary
functional and structural abnormalities of the heart muscle, often genetically determined. The …

Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited
and caused by mutations in genes encoding proteins that are involved in lysosomal function …

Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited
metabolic disorders of glycogen metabolism caused by deficiency of enzymes or …

Most protein-coding genes produce multiple protein isoforms; however, these isoforms are
commonly neglected in drug discovery. The expression of protein isoforms can be specific to …

Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy,
and neuropsychiatric problems. We designed this registry to generate a comprehensive …

Lysosomal membrane permeabilization (LMP) has recently been recognized as an
important cell death pathway in various cell types. However, studies regarding the …

Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated
with severe heart failure that can be accompanied with extracardiac neurologic, skeletal …

Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …